Re: Re: appt with metabolics consultant

[Guest guest]

Sorry - not sure what you meanAlison

 

DO you happen to know if DE detoxes the gi ammonia? and/or systemic ammonia? Thanks,

>

> Well done for keeping on keeping on Alison,you are doing great job

>

> Mx

>

>

> In a message dated 10/12/2011 08:48:22 GMT Standard Time,

> rowbotham.alison@... writes:

>

>

>

>

> Thought it would be useful to update on our recent metabolic appt. Hope

> you're reading this Nevin. (sorry this is long)

>

> Saw NHS metabolic consultant and presented YASKO genetic results along

> with clinical tests done at Breakspear (methylation panel) to show suggested

> genetic predisposition and actual clinical situation.

>

> Concentrated on CBS upregualtion and probable low BH4(as these are key to

> my 2 kids).

>

> Dr (although very nice) was not aware of a role of BH4 in elimination of

> ammonia - this worries me as it is well documented and you don't have to

> look far to find this info. Apparantly they can test BH4 levels with a finger

> prick and send card to switzerland (this would usually be for PKU patients)

> I didn't push for this test as we are considering doing it at Breakspear.

> If we do test we also need to test for BH2 conversion to BH4 not just

> overall BH4 levels. We have also been working hard to increase BH4 naturally for

> last 6 months and I thought if they did test and result is not too low it w

> ould discredit all I was presenting.

>

> He kept comparing to PKU patients who are low in BH4 and said they did not

> have urea cycle problems. I could not drum in that this was probably

> because they don't have the other problems causing the big increase in ammonia.

>

> He said that urine ammonia levels were not accurate and they would only

> look at blood - again I could not get it through to him that we also need to

> look at what the body is eliminating. Even if blood levels are not

> elevated, if ammonia is continually produced at higher levels what effect does this

> have on the body i.e low levels of BH4 and kidney stress. The symptoms my

> kids suffer are not high ammonia - they are low BH$ because of having to

> remove too much ammonia!!!

>

> In relation to CBS upregulation, he read the info and said if this was the

> case we would see low methionine on amino acid test. At this point I

> handed urine amino acid tests for both kids showing very low methionine - he

> started to listen but then said again they would only consider blood results.

> He actually did blood AA's on my kids last year and methionine was only 14.

> This actually confirmed the problem with NHS testing - their range for

> methionine is from 0 so if someone has continually low methionine unless this

> is been looked for it would not get picked up.

>

> He did confirm that continual low methionine needed treatment (this is why

> Breakspear have suggested methyl B12 injections). I asked if he would do

> bloods to check and he agreed but only when the Kids are having venous

> sample taken for something else.

>

> I plan to write to him asking for these tests to be done straight away as

> otherwise we will have corrected it AGAIN taking any resposibility from NHS.

>

> For Charlie (asd) I am quite happy to go this journey without NHS input

> but for my daughter who has blood disorder I can't. She is under so many

> consultants I have no choice but to tell them what I am doing. The YASKO

> testing has uncovered how to help her blood disorder by bypassing her gentic

> mutations and I'm determined to make them treat her (LOL!!!)

>

> I have also eventually managed to get some BH4 - currently in freezer,

> waiting until after Christmas to be brave enough to try (understand can cause

> huge detox initially)!.

>

> Have appt with genetics just after Christmas to investigate link with

> Charlie (asd) and , (blood disorder no asd but lots of asd traits). In our

> case they are definitely connected and both a result of biochemical

> inbalances/errors.

>

> BW

>

> Alison R

>

[Guest guest]

Sorry - not sure what you meanAlison

 

DO you happen to know if DE detoxes the gi ammonia? and/or systemic ammonia? Thanks,

>

> Well done for keeping on keeping on Alison,you are doing great job

>

> Mx

>

>

> In a message dated 10/12/2011 08:48:22 GMT Standard Time,

> rowbotham.alison@... writes:

>

>

>

>

> Thought it would be useful to update on our recent metabolic appt. Hope

> you're reading this Nevin. (sorry this is long)

>

> Saw NHS metabolic consultant and presented YASKO genetic results along

> with clinical tests done at Breakspear (methylation panel) to show suggested

> genetic predisposition and actual clinical situation.

>

> Concentrated on CBS upregualtion and probable low BH4(as these are key to

> my 2 kids).

>

> Dr (although very nice) was not aware of a role of BH4 in elimination of

> ammonia - this worries me as it is well documented and you don't have to

> look far to find this info. Apparantly they can test BH4 levels with a finger

> prick and send card to switzerland (this would usually be for PKU patients)

> I didn't push for this test as we are considering doing it at Breakspear.

> If we do test we also need to test for BH2 conversion to BH4 not just

> overall BH4 levels. We have also been working hard to increase BH4 naturally for

> last 6 months and I thought if they did test and result is not too low it w

> ould discredit all I was presenting.

>

> He kept comparing to PKU patients who are low in BH4 and said they did not

> have urea cycle problems. I could not drum in that this was probably

> because they don't have the other problems causing the big increase in ammonia.

>

> He said that urine ammonia levels were not accurate and they would only

> look at blood - again I could not get it through to him that we also need to

> look at what the body is eliminating. Even if blood levels are not

> elevated, if ammonia is continually produced at higher levels what effect does this

> have on the body i.e low levels of BH4 and kidney stress. The symptoms my

> kids suffer are not high ammonia - they are low BH$ because of having to

> remove too much ammonia!!!

>

> In relation to CBS upregulation, he read the info and said if this was the

> case we would see low methionine on amino acid test. At this point I

> handed urine amino acid tests for both kids showing very low methionine - he

> started to listen but then said again they would only consider blood results.

> He actually did blood AA's on my kids last year and methionine was only 14.

> This actually confirmed the problem with NHS testing - their range for

> methionine is from 0 so if someone has continually low methionine unless this

> is been looked for it would not get picked up.

>

> He did confirm that continual low methionine needed treatment (this is why

> Breakspear have suggested methyl B12 injections). I asked if he would do

> bloods to check and he agreed but only when the Kids are having venous

> sample taken for something else.

>

> I plan to write to him asking for these tests to be done straight away as

> otherwise we will have corrected it AGAIN taking any resposibility from NHS.

>

> For Charlie (asd) I am quite happy to go this journey without NHS input

> but for my daughter who has blood disorder I can't. She is under so many

> consultants I have no choice but to tell them what I am doing. The YASKO

> testing has uncovered how to help her blood disorder by bypassing her gentic

> mutations and I'm determined to make them treat her (LOL!!!)

>

> I have also eventually managed to get some BH4 - currently in freezer,

> waiting until after Christmas to be brave enough to try (understand can cause

> huge detox initially)!.

>

> Have appt with genetics just after Christmas to investigate link with

> Charlie (asd) and , (blood disorder no asd but lots of asd traits). In our

> case they are definitely connected and both a result of biochemical

> inbalances/errors.

>

> BW

>

> Alison R

>

[Guest guest]

Sorry - not sure what you meanAlison

 

DO you happen to know if DE detoxes the gi ammonia? and/or systemic ammonia? Thanks,

>

> Well done for keeping on keeping on Alison,you are doing great job

>

> Mx

>

>

> In a message dated 10/12/2011 08:48:22 GMT Standard Time,

> rowbotham.alison@... writes:

>

>

>

>

> Thought it would be useful to update on our recent metabolic appt. Hope

> you're reading this Nevin. (sorry this is long)

>

> Saw NHS metabolic consultant and presented YASKO genetic results along

> with clinical tests done at Breakspear (methylation panel) to show suggested

> genetic predisposition and actual clinical situation.

>

> Concentrated on CBS upregualtion and probable low BH4(as these are key to

> my 2 kids).

>

> Dr (although very nice) was not aware of a role of BH4 in elimination of

> ammonia - this worries me as it is well documented and you don't have to

> look far to find this info. Apparantly they can test BH4 levels with a finger

> prick and send card to switzerland (this would usually be for PKU patients)

> I didn't push for this test as we are considering doing it at Breakspear.

> If we do test we also need to test for BH2 conversion to BH4 not just

> overall BH4 levels. We have also been working hard to increase BH4 naturally for

> last 6 months and I thought if they did test and result is not too low it w

> ould discredit all I was presenting.

>

> He kept comparing to PKU patients who are low in BH4 and said they did not

> have urea cycle problems. I could not drum in that this was probably

> because they don't have the other problems causing the big increase in ammonia.

>

> He said that urine ammonia levels were not accurate and they would only

> look at blood - again I could not get it through to him that we also need to

> look at what the body is eliminating. Even if blood levels are not

> elevated, if ammonia is continually produced at higher levels what effect does this

> have on the body i.e low levels of BH4 and kidney stress. The symptoms my

> kids suffer are not high ammonia - they are low BH$ because of having to

> remove too much ammonia!!!

>

> In relation to CBS upregulation, he read the info and said if this was the

> case we would see low methionine on amino acid test. At this point I

> handed urine amino acid tests for both kids showing very low methionine - he

> started to listen but then said again they would only consider blood results.

> He actually did blood AA's on my kids last year and methionine was only 14.

> This actually confirmed the problem with NHS testing - their range for

> methionine is from 0 so if someone has continually low methionine unless this

> is been looked for it would not get picked up.

>

> He did confirm that continual low methionine needed treatment (this is why

> Breakspear have suggested methyl B12 injections). I asked if he would do

> bloods to check and he agreed but only when the Kids are having venous

> sample taken for something else.

>

> I plan to write to him asking for these tests to be done straight away as

> otherwise we will have corrected it AGAIN taking any resposibility from NHS.

>

> For Charlie (asd) I am quite happy to go this journey without NHS input

> but for my daughter who has blood disorder I can't. She is under so many

> consultants I have no choice but to tell them what I am doing. The YASKO

> testing has uncovered how to help her blood disorder by bypassing her gentic

> mutations and I'm determined to make them treat her (LOL!!!)

>

> I have also eventually managed to get some BH4 - currently in freezer,

> waiting until after Christmas to be brave enough to try (understand can cause

> huge detox initially)!.

>

> Have appt with genetics just after Christmas to investigate link with

> Charlie (asd) and , (blood disorder no asd but lots of asd traits). In our

> case they are definitely connected and both a result of biochemical

> inbalances/errors.

>

> BW

>

> Alison R

>

[Guest guest]

No idea sorry, I used Zeolites for ammonia and strangely kept the gains afterwards so I am quite sure it was doing summat else good

Mxx

DO you happen to know if DE detoxes the gi ammonia? and/or systemic ammonia? Thanks, >> Well done for keeping on keeping on Alison,you are doing great job > > Mx> > > > > > > > Thought it would be useful to update on our recent metabolic appt. Hope > you're reading this Nevin. (sorry this is long)> > Saw NHS metabolic consultant and presented YASKO genetic results along > with clinical tests done at Breakspear (methylation panel) to show suggested > genetic predisposition and actual clinical situation.> > Concentrated on CBS upregualtion and probable low BH4(as these are key to > my 2 kids).> > Dr (although very nice) was not aware of a role of BH4 in elimination of > ammonia - this worries me as it is well documented and you don't have to > look far to find this info. Apparantly they can test BH4 levels with a finger > prick and send card to switzerland (this would usually be for PKU patients) > I didn't push for this test as we are considering doing it at Breakspear. > If we do test we also need to test for BH2 conversion to BH4 not just > overall BH4 levels. We have also been working hard to increase BH4 naturally for > last 6 months and I thought if they did test and result is not too low it w> ould discredit all I was presenting.> > He kept comparing to PKU patients who are low in BH4 and said they did not > have urea cycle problems. I could not drum in that this was probably > because they don't have the other problems causing the big increase in ammonia.> > He said that urine ammonia levels were not accurate and they would only > look at blood - again I could not get it through to him that we also need to > look at what the body is eliminating. Even if blood levels are not > elevated, if ammonia is continually produced at higher levels what effect does this > have on the body i.e low levels of BH4 and kidney stress. The symptoms my > kids suffer are not high ammonia - they are low BH$ because of having to > remove too much ammonia!!!> > In relation to CBS upregulation, he read the info and said if this was the > case we would see low methionine on amino acid test. At this point I > handed urine amino acid tests for both kids showing very low methionine - he > started to listen but then said again they would only consider blood results. > He actually did blood AA's on my kids last year and methionine was only 14. > This actually confirmed the problem with NHS testing - their range for > methionine is from 0 so if someone has continually low methionine unless this > is been looked for it would not get picked up.> > He did confirm that continual low methionine needed treatment (this is why > Breakspear have suggested methyl B12 injections). I asked if he would do > bloods to check and he agreed but only when the Kids are having venous > sample taken for something else.> > I plan to write to him asking for these tests to be done straight away as > otherwise we will have corrected it AGAIN taking any resposibility from NHS.> > For Charlie (asd) I am quite happy to go this journey without NHS input > but for my daughter who has blood disorder I can't. She is under so many > consultants I have no choice but to tell them what I am doing. The YASKO > testing has uncovered how to help her blood disorder by bypassing her gentic > mutations and I'm determined to make them treat her (LOL!!!)> > I have also eventually managed to get some BH4 - currently in freezer, > waiting until after Christmas to be brave enough to try (understand can cause > huge detox initially)!.> > Have appt with genetics just after Christmas to investigate link with > Charlie (asd) and , (blood disorder no asd but lots of asd traits). In our > case they are definitely connected and both a result of biochemical > inbalances/errors.> > BW> > Alison R>

[Guest guest]

No idea sorry, I used Zeolites for ammonia and strangely kept the gains afterwards so I am quite sure it was doing summat else good

Mxx

DO you happen to know if DE detoxes the gi ammonia? and/or systemic ammonia? Thanks, >> Well done for keeping on keeping on Alison,you are doing great job > > Mx> > > > > > > > Thought it would be useful to update on our recent metabolic appt. Hope > you're reading this Nevin. (sorry this is long)> > Saw NHS metabolic consultant and presented YASKO genetic results along > with clinical tests done at Breakspear (methylation panel) to show suggested > genetic predisposition and actual clinical situation.> > Concentrated on CBS upregualtion and probable low BH4(as these are key to > my 2 kids).> > Dr (although very nice) was not aware of a role of BH4 in elimination of > ammonia - this worries me as it is well documented and you don't have to > look far to find this info. Apparantly they can test BH4 levels with a finger > prick and send card to switzerland (this would usually be for PKU patients) > I didn't push for this test as we are considering doing it at Breakspear. > If we do test we also need to test for BH2 conversion to BH4 not just > overall BH4 levels. We have also been working hard to increase BH4 naturally for > last 6 months and I thought if they did test and result is not too low it w> ould discredit all I was presenting.> > He kept comparing to PKU patients who are low in BH4 and said they did not > have urea cycle problems. I could not drum in that this was probably > because they don't have the other problems causing the big increase in ammonia.> > He said that urine ammonia levels were not accurate and they would only > look at blood - again I could not get it through to him that we also need to > look at what the body is eliminating. Even if blood levels are not > elevated, if ammonia is continually produced at higher levels what effect does this > have on the body i.e low levels of BH4 and kidney stress. The symptoms my > kids suffer are not high ammonia - they are low BH$ because of having to > remove too much ammonia!!!> > In relation to CBS upregulation, he read the info and said if this was the > case we would see low methionine on amino acid test. At this point I > handed urine amino acid tests for both kids showing very low methionine - he > started to listen but then said again they would only consider blood results. > He actually did blood AA's on my kids last year and methionine was only 14. > This actually confirmed the problem with NHS testing - their range for > methionine is from 0 so if someone has continually low methionine unless this > is been looked for it would not get picked up.> > He did confirm that continual low methionine needed treatment (this is why > Breakspear have suggested methyl B12 injections). I asked if he would do > bloods to check and he agreed but only when the Kids are having venous > sample taken for something else.> > I plan to write to him asking for these tests to be done straight away as > otherwise we will have corrected it AGAIN taking any resposibility from NHS.> > For Charlie (asd) I am quite happy to go this journey without NHS input > but for my daughter who has blood disorder I can't. She is under so many > consultants I have no choice but to tell them what I am doing. The YASKO > testing has uncovered how to help her blood disorder by bypassing her gentic > mutations and I'm determined to make them treat her (LOL!!!)> > I have also eventually managed to get some BH4 - currently in freezer, > waiting until after Christmas to be brave enough to try (understand can cause > huge detox initially)!.> > Have appt with genetics just after Christmas to investigate link with > Charlie (asd) and , (blood disorder no asd but lots of asd traits). In our > case they are definitely connected and both a result of biochemical > inbalances/errors.> > BW> > Alison R>

[Guest guest]

No idea sorry, I used Zeolites for ammonia and strangely kept the gains afterwards so I am quite sure it was doing summat else good

Mxx

DO you happen to know if DE detoxes the gi ammonia? and/or systemic ammonia? Thanks, >> Well done for keeping on keeping on Alison,you are doing great job > > Mx> > > > > > > > Thought it would be useful to update on our recent metabolic appt. Hope > you're reading this Nevin. (sorry this is long)> > Saw NHS metabolic consultant and presented YASKO genetic results along > with clinical tests done at Breakspear (methylation panel) to show suggested > genetic predisposition and actual clinical situation.> > Concentrated on CBS upregualtion and probable low BH4(as these are key to > my 2 kids).> > Dr (although very nice) was not aware of a role of BH4 in elimination of > ammonia - this worries me as it is well documented and you don't have to > look far to find this info. Apparantly they can test BH4 levels with a finger > prick and send card to switzerland (this would usually be for PKU patients) > I didn't push for this test as we are considering doing it at Breakspear. > If we do test we also need to test for BH2 conversion to BH4 not just > overall BH4 levels. We have also been working hard to increase BH4 naturally for > last 6 months and I thought if they did test and result is not too low it w> ould discredit all I was presenting.> > He kept comparing to PKU patients who are low in BH4 and said they did not > have urea cycle problems. I could not drum in that this was probably > because they don't have the other problems causing the big increase in ammonia.> > He said that urine ammonia levels were not accurate and they would only > look at blood - again I could not get it through to him that we also need to > look at what the body is eliminating. Even if blood levels are not > elevated, if ammonia is continually produced at higher levels what effect does this > have on the body i.e low levels of BH4 and kidney stress. The symptoms my > kids suffer are not high ammonia - they are low BH$ because of having to > remove too much ammonia!!!> > In relation to CBS upregulation, he read the info and said if this was the > case we would see low methionine on amino acid test. At this point I > handed urine amino acid tests for both kids showing very low methionine - he > started to listen but then said again they would only consider blood results. > He actually did blood AA's on my kids last year and methionine was only 14. > This actually confirmed the problem with NHS testing - their range for > methionine is from 0 so if someone has continually low methionine unless this > is been looked for it would not get picked up.> > He did confirm that continual low methionine needed treatment (this is why > Breakspear have suggested methyl B12 injections). I asked if he would do > bloods to check and he agreed but only when the Kids are having venous > sample taken for something else.> > I plan to write to him asking for these tests to be done straight away as > otherwise we will have corrected it AGAIN taking any resposibility from NHS.> > For Charlie (asd) I am quite happy to go this journey without NHS input > but for my daughter who has blood disorder I can't. She is under so many > consultants I have no choice but to tell them what I am doing. The YASKO > testing has uncovered how to help her blood disorder by bypassing her gentic > mutations and I'm determined to make them treat her (LOL!!!)> > I have also eventually managed to get some BH4 - currently in freezer, > waiting until after Christmas to be brave enough to try (understand can cause > huge detox initially)!.> > Have appt with genetics just after Christmas to investigate link with > Charlie (asd) and , (blood disorder no asd but lots of asd traits). In our > case they are definitely connected and both a result of biochemical > inbalances/errors.> > BW> > Alison R>

[Guest guest]

Hi Alison, As you say nhs will only take ammonia being elevated from blood not urine- we've had similar discussions some months back. It is also a blood test that is hard to get accurate levels of- or so consultant said. My ds had high blood ammonia levels but consultant didn't consider it anything to be overly concerned about - it's like thyroid testing- it seems it has to be very out of range to attract concern. Just our experience. Janet To: Autism-Biomedical-Europe From: rowbotham.alison@...Date: Sat, 10 Dec 2011 19:02:52 +0000Subject: Re: Re: appt with metabolics consultant

Sorry - not sure what you meanAlison

DO you happen to know if DE detoxes the gi ammonia? and/or systemic ammonia? Thanks,

>

> Well done for keeping on keeping on Alison,you are doing great job

>

> Mx

>

>

> In a message dated 10/12/2011 08:48:22 GMT Standard Time,

> rowbotham.alison@... writes:

>

>

>

>

> Thought it would be useful to update on our recent metabolic appt. Hope

> you're reading this Nevin. (sorry this is long)

>

> Saw NHS metabolic consultant and presented YASKO genetic results along

> with clinical tests done at Breakspear (methylation panel) to show suggested

> genetic predisposition and actual clinical situation.

>

> Concentrated on CBS upregualtion and probable low BH4(as these are key to

> my 2 kids).

>

> Dr (although very nice) was not aware of a role of BH4 in elimination of

> ammonia - this worries me as it is well documented and you don't have to

> look far to find this info. Apparantly they can test BH4 levels with a finger

> prick and send card to switzerland (this would usually be for PKU patients)

> I didn't push for this test as we are considering doing it at Breakspear.

> If we do test we also need to test for BH2 conversion to BH4 not just

> overall BH4 levels. We have also been working hard to increase BH4 naturally for

> last 6 months and I thought if they did test and result is not too low it w

> ould discredit all I was presenting.

>

> He kept comparing to PKU patients who are low in BH4 and said they did not

> have urea cycle problems. I could not drum in that this was probably

> because they don't have the other problems causing the big increase in ammonia.

>

> He said that urine ammonia levels were not accurate and they would only

> look at blood - again I could not get it through to him that we also need to

> look at what the body is eliminating. Even if blood levels are not

> elevated, if ammonia is continually produced at higher levels what effect does this

> have on the body i.e low levels of BH4 and kidney stress. The symptoms my

> kids suffer are not high ammonia - they are low BH$ because of having to

> remove too much ammonia!!!

>

> In relation to CBS upregulation, he read the info and said if this was the

> case we would see low methionine on amino acid test. At this point I

> handed urine amino acid tests for both kids showing very low methionine - he

> started to listen but then said again they would only consider blood results.

> He actually did blood AA's on my kids last year and methionine was only 14.

> This actually confirmed the problem with NHS testing - their range for

> methionine is from 0 so if someone has continually low methionine unless this

> is been looked for it would not get picked up.

>

> He did confirm that continual low methionine needed treatment (this is why

> Breakspear have suggested methyl B12 injections). I asked if he would do

> bloods to check and he agreed but only when the Kids are having venous

> sample taken for something else.

>

> I plan to write to him asking for these tests to be done straight away as

> otherwise we will have corrected it AGAIN taking any resposibility from NHS.

>

> For Charlie (asd) I am quite happy to go this journey without NHS input

> but for my daughter who has blood disorder I can't. She is under so many

> consultants I have no choice but to tell them what I am doing. The YASKO

> testing has uncovered how to help her blood disorder by bypassing her gentic

> mutations and I'm determined to make them treat her (LOL!!!)

>

> I have also eventually managed to get some BH4 - currently in freezer,

> waiting until after Christmas to be brave enough to try (understand can cause

> huge detox initially)!.

>

> Have appt with genetics just after Christmas to investigate link with

> Charlie (asd) and , (blood disorder no asd but lots of asd traits). In our

> case they are definitely connected and both a result of biochemical

> inbalances/errors.

>

> BW

>

> Alison R

>

[Guest guest]

Hi Alison, As you say nhs will only take ammonia being elevated from blood not urine- we've had similar discussions some months back. It is also a blood test that is hard to get accurate levels of- or so consultant said. My ds had high blood ammonia levels but consultant didn't consider it anything to be overly concerned about - it's like thyroid testing- it seems it has to be very out of range to attract concern. Just our experience. Janet To: Autism-Biomedical-Europe From: rowbotham.alison@...Date: Sat, 10 Dec 2011 19:02:52 +0000Subject: Re: Re: appt with metabolics consultant

Sorry - not sure what you meanAlison

DO you happen to know if DE detoxes the gi ammonia? and/or systemic ammonia? Thanks,

>

> Well done for keeping on keeping on Alison,you are doing great job

>

> Mx

>

>

> In a message dated 10/12/2011 08:48:22 GMT Standard Time,

> rowbotham.alison@... writes:

>

>

>

>

> Thought it would be useful to update on our recent metabolic appt. Hope

> you're reading this Nevin. (sorry this is long)

>

> Saw NHS metabolic consultant and presented YASKO genetic results along

> with clinical tests done at Breakspear (methylation panel) to show suggested

> genetic predisposition and actual clinical situation.

>

> Concentrated on CBS upregualtion and probable low BH4(as these are key to

> my 2 kids).

>

> Dr (although very nice) was not aware of a role of BH4 in elimination of

> ammonia - this worries me as it is well documented and you don't have to

> look far to find this info. Apparantly they can test BH4 levels with a finger

> prick and send card to switzerland (this would usually be for PKU patients)

> I didn't push for this test as we are considering doing it at Breakspear.

> If we do test we also need to test for BH2 conversion to BH4 not just

> overall BH4 levels. We have also been working hard to increase BH4 naturally for

> last 6 months and I thought if they did test and result is not too low it w

> ould discredit all I was presenting.

>

> He kept comparing to PKU patients who are low in BH4 and said they did not

> have urea cycle problems. I could not drum in that this was probably

> because they don't have the other problems causing the big increase in ammonia.

>

> He said that urine ammonia levels were not accurate and they would only

> look at blood - again I could not get it through to him that we also need to

> look at what the body is eliminating. Even if blood levels are not

> elevated, if ammonia is continually produced at higher levels what effect does this

> have on the body i.e low levels of BH4 and kidney stress. The symptoms my

> kids suffer are not high ammonia - they are low BH$ because of having to

> remove too much ammonia!!!

>

> In relation to CBS upregulation, he read the info and said if this was the

> case we would see low methionine on amino acid test. At this point I

> handed urine amino acid tests for both kids showing very low methionine - he

> started to listen but then said again they would only consider blood results.

> He actually did blood AA's on my kids last year and methionine was only 14.

> This actually confirmed the problem with NHS testing - their range for

> methionine is from 0 so if someone has continually low methionine unless this

> is been looked for it would not get picked up.

>

> He did confirm that continual low methionine needed treatment (this is why

> Breakspear have suggested methyl B12 injections). I asked if he would do

> bloods to check and he agreed but only when the Kids are having venous

> sample taken for something else.

>

> I plan to write to him asking for these tests to be done straight away as

> otherwise we will have corrected it AGAIN taking any resposibility from NHS.

>

> For Charlie (asd) I am quite happy to go this journey without NHS input

> but for my daughter who has blood disorder I can't. She is under so many

> consultants I have no choice but to tell them what I am doing. The YASKO

> testing has uncovered how to help her blood disorder by bypassing her gentic

> mutations and I'm determined to make them treat her (LOL!!!)

>

> I have also eventually managed to get some BH4 - currently in freezer,

> waiting until after Christmas to be brave enough to try (understand can cause

> huge detox initially)!.

>

> Have appt with genetics just after Christmas to investigate link with

> Charlie (asd) and , (blood disorder no asd but lots of asd traits). In our

> case they are definitely connected and both a result of biochemical

> inbalances/errors.

>

> BW

>

> Alison R

>

[Guest guest]

Hi Alison, As you say nhs will only take ammonia being elevated from blood not urine- we've had similar discussions some months back. It is also a blood test that is hard to get accurate levels of- or so consultant said. My ds had high blood ammonia levels but consultant didn't consider it anything to be overly concerned about - it's like thyroid testing- it seems it has to be very out of range to attract concern. Just our experience. Janet To: Autism-Biomedical-Europe From: rowbotham.alison@...Date: Sat, 10 Dec 2011 19:02:52 +0000Subject: Re: Re: appt with metabolics consultant

Sorry - not sure what you meanAlison

DO you happen to know if DE detoxes the gi ammonia? and/or systemic ammonia? Thanks,

>

> Well done for keeping on keeping on Alison,you are doing great job

>

> Mx

>

>

> In a message dated 10/12/2011 08:48:22 GMT Standard Time,

> rowbotham.alison@... writes:

>

>

>

>

> Thought it would be useful to update on our recent metabolic appt. Hope

> you're reading this Nevin. (sorry this is long)

>

> Saw NHS metabolic consultant and presented YASKO genetic results along

> with clinical tests done at Breakspear (methylation panel) to show suggested

> genetic predisposition and actual clinical situation.

>

> Concentrated on CBS upregualtion and probable low BH4(as these are key to

> my 2 kids).

>

> Dr (although very nice) was not aware of a role of BH4 in elimination of

> ammonia - this worries me as it is well documented and you don't have to

> look far to find this info. Apparantly they can test BH4 levels with a finger

> prick and send card to switzerland (this would usually be for PKU patients)

> I didn't push for this test as we are considering doing it at Breakspear.

> If we do test we also need to test for BH2 conversion to BH4 not just

> overall BH4 levels. We have also been working hard to increase BH4 naturally for

> last 6 months and I thought if they did test and result is not too low it w

> ould discredit all I was presenting.

>

> He kept comparing to PKU patients who are low in BH4 and said they did not

> have urea cycle problems. I could not drum in that this was probably

> because they don't have the other problems causing the big increase in ammonia.

>

> He said that urine ammonia levels were not accurate and they would only

> look at blood - again I could not get it through to him that we also need to

> look at what the body is eliminating. Even if blood levels are not

> elevated, if ammonia is continually produced at higher levels what effect does this

> have on the body i.e low levels of BH4 and kidney stress. The symptoms my

> kids suffer are not high ammonia - they are low BH$ because of having to

> remove too much ammonia!!!

>

> In relation to CBS upregulation, he read the info and said if this was the

> case we would see low methionine on amino acid test. At this point I

> handed urine amino acid tests for both kids showing very low methionine - he

> started to listen but then said again they would only consider blood results.

> He actually did blood AA's on my kids last year and methionine was only 14.

> This actually confirmed the problem with NHS testing - their range for

> methionine is from 0 so if someone has continually low methionine unless this

> is been looked for it would not get picked up.

>

> He did confirm that continual low methionine needed treatment (this is why

> Breakspear have suggested methyl B12 injections). I asked if he would do

> bloods to check and he agreed but only when the Kids are having venous

> sample taken for something else.

>

> I plan to write to him asking for these tests to be done straight away as

> otherwise we will have corrected it AGAIN taking any resposibility from NHS.

>

> For Charlie (asd) I am quite happy to go this journey without NHS input

> but for my daughter who has blood disorder I can't. She is under so many

> consultants I have no choice but to tell them what I am doing. The YASKO

> testing has uncovered how to help her blood disorder by bypassing her gentic

> mutations and I'm determined to make them treat her (LOL!!!)

>

> I have also eventually managed to get some BH4 - currently in freezer,

> waiting until after Christmas to be brave enough to try (understand can cause

> huge detox initially)!.

>

> Have appt with genetics just after Christmas to investigate link with

> Charlie (asd) and , (blood disorder no asd but lots of asd traits). In our

> case they are definitely connected and both a result of biochemical

> inbalances/errors.

>

> BW

>

> Alison R

>

[Guest guest]

Hi NevinI'm starting to wonder how valuable plasma ammonia test is for our kids.  If they are continually producing more ammonia than a non asd person then we need to consider how the body is eliminating this.

We are trying to increase BH4 by lowering ammonia produced. i.e ammonia protocol - lowering protein, using charcoal flushes, lowering sulphur.Also folapro (or methyl mate helps with conversion from BH2 to BH4.  Vitamin C also helps to make BH4. Aluminium and bacterial issues block conversion of BH2 to BH4 so by supporting gut and trying to eliminate aluminum will aslo help.  I undestand there should also be plenty of liver support.

Charlie does not tolerate A1298/liver support capsules due to herbs so we are using 1/4 ora liv but I have been advised on yasko forum that I need to increase this.  We are also using CBS RNA.

All these things should be helping, however I do feel that Charlie probably needs prescription BH4 - eventually I have got hold of some.  Just waiting for response on test results to see what he needs ist.

Please let me know when you get fee back from Dr AmyBWAlison

 

Hi Alison,

It's good to see that you are looking at this complex issue together with DrG.from Breakspear Hospital.We will see him in January.I copied your message and I am going to ask him the test you mentioned here.

How do you naturally increase BH4, what are you giving to Charlie?

Roni's test results all came from the GOSH.They found nothing significant related to his seizures except one enzyme which I mentioned it here before.

His plasma ammonia is low, 14 less than the ref value of 40

His methionine....23 (Ref 10-60) perhaps it is low....

In his spinal fluid.. there was no measle virus and no herpes . They used the word 'herpes simplex , it was negative..I wonder is it the same herpes virus which Dr Goldberg is treating?

I will hear DrYasko's recommendation on Monday.Last night he had a silly, funny laughter again, I was expecting seizure any minute but it didn't happen..perhaps regular use of Ammonia RNA helped??I don't know.Perhaps it was the moon affect for that silly, manic laughter for an hour??

Please keep inform us as our children have both similarities in genomic profile, your observation and investigation is helping me.

I don't know what DrG is going to recommend us?

All the best

Nevin

>

> Thought it would be useful to update on our recent metabolic appt. Hope you're reading this Nevin. (sorry this is long)

>

> Saw NHS metabolic consultant and presented YASKO genetic results along with clinical tests done at Breakspear (methylation panel) to show suggested genetic predisposition and actual clinical situation.

>

> Concentrated on CBS upregualtion and probable low BH4(as these are key to my 2 kids).

>

> Dr (although very nice) was not aware of a role of BH4 in elimination of ammonia - this worries me as it is well documented and you don't have to look far to find this info. Apparantly they can test BH4 levels with a finger prick and send card to switzerland (this would usually be for PKU patients) I didn't push for this test as we are considering doing it at Breakspear. If we do test we also need to test for BH2 conversion to BH4 not just overall BH4 levels. We have also been working hard to increase BH4 naturally for last 6 months and I thought if they did test and result is not too low it would discredit all I was presenting.

>

> He kept comparing to PKU patients who are low in BH4 and said they did not have urea cycle problems. I could not drum in that this was probably because they don't have the other problems causing the big increase in ammonia.

>

> He said that urine ammonia levels were not accurate and they would only look at blood - again I could not get it through to him that we also need to look at what the body is eliminating. Even if blood levels are not elevated, if ammonia is continually produced at higher levels what effect does this have on the body i.e low levels of BH4 and kidney stress. The symptoms my kids suffer are not high ammonia - they are low BH$ because of having to remove too much ammonia!!!

>

> In relation to CBS upregulation, he read the info and said if this was the case we would see low methionine on amino acid test. At this point I handed urine amino acid tests for both kids showing very low methionine - he started to listen but then said again they would only consider blood results. He actually did blood AA's on my kids last year and methionine was only 14. This actually confirmed the problem with NHS testing - their range for methionine is from 0 so if someone has continually low methionine unless this is been looked for it would not get picked up.

>

> He did confirm that continual low methionine needed treatment (this is why Breakspear have suggested methyl B12 injections). I asked if he would do bloods to check and he agreed but only when the Kids are having venous sample taken for something else.

>

> I plan to write to him asking for these tests to be done straight away as otherwise we will have corrected it AGAIN taking any resposibility from NHS.

>

> For Charlie (asd) I am quite happy to go this journey without NHS input but for my daughter who has blood disorder I can't. She is under so many consultants I have no choice but to tell them what I am doing. The YASKO testing has uncovered how to help her blood disorder by bypassing her gentic mutations and I'm determined to make them treat her (LOL!!!)

>

> I have also eventually managed to get some BH4 - currently in freezer, waiting until after Christmas to be brave enough to try (understand can cause huge detox initially)!.

>

> Have appt with genetics just after Christmas to investigate link with Charlie (asd) and , (blood disorder no asd but lots of asd traits). In our case they are definitely connected and both a result of biochemical inbalances/errors.

>

> BW

>

> Alison R

>

[Guest guest]

Hi NevinI'm starting to wonder how valuable plasma ammonia test is for our kids.  If they are continually producing more ammonia than a non asd person then we need to consider how the body is eliminating this.

We are trying to increase BH4 by lowering ammonia produced. i.e ammonia protocol - lowering protein, using charcoal flushes, lowering sulphur.Also folapro (or methyl mate helps with conversion from BH2 to BH4.  Vitamin C also helps to make BH4. Aluminium and bacterial issues block conversion of BH2 to BH4 so by supporting gut and trying to eliminate aluminum will aslo help.  I undestand there should also be plenty of liver support.

Charlie does not tolerate A1298/liver support capsules due to herbs so we are using 1/4 ora liv but I have been advised on yasko forum that I need to increase this.  We are also using CBS RNA.

All these things should be helping, however I do feel that Charlie probably needs prescription BH4 - eventually I have got hold of some.  Just waiting for response on test results to see what he needs ist.

Please let me know when you get fee back from Dr AmyBWAlison

 

Hi Alison,

It's good to see that you are looking at this complex issue together with DrG.from Breakspear Hospital.We will see him in January.I copied your message and I am going to ask him the test you mentioned here.

How do you naturally increase BH4, what are you giving to Charlie?

Roni's test results all came from the GOSH.They found nothing significant related to his seizures except one enzyme which I mentioned it here before.

His plasma ammonia is low, 14 less than the ref value of 40

His methionine....23 (Ref 10-60) perhaps it is low....

In his spinal fluid.. there was no measle virus and no herpes . They used the word 'herpes simplex , it was negative..I wonder is it the same herpes virus which Dr Goldberg is treating?

I will hear DrYasko's recommendation on Monday.Last night he had a silly, funny laughter again, I was expecting seizure any minute but it didn't happen..perhaps regular use of Ammonia RNA helped??I don't know.Perhaps it was the moon affect for that silly, manic laughter for an hour??

Please keep inform us as our children have both similarities in genomic profile, your observation and investigation is helping me.

I don't know what DrG is going to recommend us?

All the best

Nevin

>

> Thought it would be useful to update on our recent metabolic appt. Hope you're reading this Nevin. (sorry this is long)

>

> Saw NHS metabolic consultant and presented YASKO genetic results along with clinical tests done at Breakspear (methylation panel) to show suggested genetic predisposition and actual clinical situation.

>

> Concentrated on CBS upregualtion and probable low BH4(as these are key to my 2 kids).

>

> Dr (although very nice) was not aware of a role of BH4 in elimination of ammonia - this worries me as it is well documented and you don't have to look far to find this info. Apparantly they can test BH4 levels with a finger prick and send card to switzerland (this would usually be for PKU patients) I didn't push for this test as we are considering doing it at Breakspear. If we do test we also need to test for BH2 conversion to BH4 not just overall BH4 levels. We have also been working hard to increase BH4 naturally for last 6 months and I thought if they did test and result is not too low it would discredit all I was presenting.

>

> He kept comparing to PKU patients who are low in BH4 and said they did not have urea cycle problems. I could not drum in that this was probably because they don't have the other problems causing the big increase in ammonia.

>

> He said that urine ammonia levels were not accurate and they would only look at blood - again I could not get it through to him that we also need to look at what the body is eliminating. Even if blood levels are not elevated, if ammonia is continually produced at higher levels what effect does this have on the body i.e low levels of BH4 and kidney stress. The symptoms my kids suffer are not high ammonia - they are low BH$ because of having to remove too much ammonia!!!

>

> In relation to CBS upregulation, he read the info and said if this was the case we would see low methionine on amino acid test. At this point I handed urine amino acid tests for both kids showing very low methionine - he started to listen but then said again they would only consider blood results. He actually did blood AA's on my kids last year and methionine was only 14. This actually confirmed the problem with NHS testing - their range for methionine is from 0 so if someone has continually low methionine unless this is been looked for it would not get picked up.

>

> He did confirm that continual low methionine needed treatment (this is why Breakspear have suggested methyl B12 injections). I asked if he would do bloods to check and he agreed but only when the Kids are having venous sample taken for something else.

>

> I plan to write to him asking for these tests to be done straight away as otherwise we will have corrected it AGAIN taking any resposibility from NHS.

>

> For Charlie (asd) I am quite happy to go this journey without NHS input but for my daughter who has blood disorder I can't. She is under so many consultants I have no choice but to tell them what I am doing. The YASKO testing has uncovered how to help her blood disorder by bypassing her gentic mutations and I'm determined to make them treat her (LOL!!!)

>

> I have also eventually managed to get some BH4 - currently in freezer, waiting until after Christmas to be brave enough to try (understand can cause huge detox initially)!.

>

> Have appt with genetics just after Christmas to investigate link with Charlie (asd) and , (blood disorder no asd but lots of asd traits). In our case they are definitely connected and both a result of biochemical inbalances/errors.

>

> BW

>

> Alison R

>

[Guest guest]

Hi NevinI'm starting to wonder how valuable plasma ammonia test is for our kids.  If they are continually producing more ammonia than a non asd person then we need to consider how the body is eliminating this.

We are trying to increase BH4 by lowering ammonia produced. i.e ammonia protocol - lowering protein, using charcoal flushes, lowering sulphur.Also folapro (or methyl mate helps with conversion from BH2 to BH4.  Vitamin C also helps to make BH4. Aluminium and bacterial issues block conversion of BH2 to BH4 so by supporting gut and trying to eliminate aluminum will aslo help.  I undestand there should also be plenty of liver support.

Charlie does not tolerate A1298/liver support capsules due to herbs so we are using 1/4 ora liv but I have been advised on yasko forum that I need to increase this.  We are also using CBS RNA.

All these things should be helping, however I do feel that Charlie probably needs prescription BH4 - eventually I have got hold of some.  Just waiting for response on test results to see what he needs ist.

Please let me know when you get fee back from Dr AmyBWAlison

 

Hi Alison,

It's good to see that you are looking at this complex issue together with DrG.from Breakspear Hospital.We will see him in January.I copied your message and I am going to ask him the test you mentioned here.

How do you naturally increase BH4, what are you giving to Charlie?

Roni's test results all came from the GOSH.They found nothing significant related to his seizures except one enzyme which I mentioned it here before.

His plasma ammonia is low, 14 less than the ref value of 40

His methionine....23 (Ref 10-60) perhaps it is low....

In his spinal fluid.. there was no measle virus and no herpes . They used the word 'herpes simplex , it was negative..I wonder is it the same herpes virus which Dr Goldberg is treating?

I will hear DrYasko's recommendation on Monday.Last night he had a silly, funny laughter again, I was expecting seizure any minute but it didn't happen..perhaps regular use of Ammonia RNA helped??I don't know.Perhaps it was the moon affect for that silly, manic laughter for an hour??

Please keep inform us as our children have both similarities in genomic profile, your observation and investigation is helping me.

I don't know what DrG is going to recommend us?

All the best

Nevin

>

> Thought it would be useful to update on our recent metabolic appt. Hope you're reading this Nevin. (sorry this is long)

>

> Saw NHS metabolic consultant and presented YASKO genetic results along with clinical tests done at Breakspear (methylation panel) to show suggested genetic predisposition and actual clinical situation.

>

> Concentrated on CBS upregualtion and probable low BH4(as these are key to my 2 kids).

>

> Dr (although very nice) was not aware of a role of BH4 in elimination of ammonia - this worries me as it is well documented and you don't have to look far to find this info. Apparantly they can test BH4 levels with a finger prick and send card to switzerland (this would usually be for PKU patients) I didn't push for this test as we are considering doing it at Breakspear. If we do test we also need to test for BH2 conversion to BH4 not just overall BH4 levels. We have also been working hard to increase BH4 naturally for last 6 months and I thought if they did test and result is not too low it would discredit all I was presenting.

>

> He kept comparing to PKU patients who are low in BH4 and said they did not have urea cycle problems. I could not drum in that this was probably because they don't have the other problems causing the big increase in ammonia.

>

> He said that urine ammonia levels were not accurate and they would only look at blood - again I could not get it through to him that we also need to look at what the body is eliminating. Even if blood levels are not elevated, if ammonia is continually produced at higher levels what effect does this have on the body i.e low levels of BH4 and kidney stress. The symptoms my kids suffer are not high ammonia - they are low BH$ because of having to remove too much ammonia!!!

>

> In relation to CBS upregulation, he read the info and said if this was the case we would see low methionine on amino acid test. At this point I handed urine amino acid tests for both kids showing very low methionine - he started to listen but then said again they would only consider blood results. He actually did blood AA's on my kids last year and methionine was only 14. This actually confirmed the problem with NHS testing - their range for methionine is from 0 so if someone has continually low methionine unless this is been looked for it would not get picked up.

>

> He did confirm that continual low methionine needed treatment (this is why Breakspear have suggested methyl B12 injections). I asked if he would do bloods to check and he agreed but only when the Kids are having venous sample taken for something else.

>

> I plan to write to him asking for these tests to be done straight away as otherwise we will have corrected it AGAIN taking any resposibility from NHS.

>

> For Charlie (asd) I am quite happy to go this journey without NHS input but for my daughter who has blood disorder I can't. She is under so many consultants I have no choice but to tell them what I am doing. The YASKO testing has uncovered how to help her blood disorder by bypassing her gentic mutations and I'm determined to make them treat her (LOL!!!)

>

> I have also eventually managed to get some BH4 - currently in freezer, waiting until after Christmas to be brave enough to try (understand can cause huge detox initially)!.

>

> Have appt with genetics just after Christmas to investigate link with Charlie (asd) and , (blood disorder no asd but lots of asd traits). In our case they are definitely connected and both a result of biochemical inbalances/errors.

>

> BW

>

> Alison R

>

[Guest guest]

This is really interesting as I understand gut bugs can cause same presentation as CBS up regulation even if you do not have the SNP.  I think this is related to sulphur feeding the bugs.I also understand that BH4 is responsible for neurotransmitter balance and plays a huge role in other hormones - may be worth looking at this further.

When we have spoke previously I have felt my daughter and your daughter have some similarities.  A couple of years ago we put on arginine as it was recommended on her organic acids test to reduce ammonia.  She was fantastic whilst on this.  Her anxiety totally disappeared, she got a sparkle back in her eye, was generally happier, excelled at school, had improved tolerence to sports and from a blood disorder point of view she stopped needing blood transfusions.

During this time the marker on her ONE tests improved particulary citric acid cycle and neurotransmitter balance.We had to stop the arginine last october as she had a primary herpes infection and arginine can feed herpes.  I have since learned that the balance of arginine to BH4 is very important and if there is not enough BH4 toxic forms of nitric oxide is produced which causes oxidative stress.  

Through YASKO I have learned that BH4 is the rate limiting factor for the urea cycle and is at the start point - one step before arginine.  I am hoping once we add BH4 we will see similar positives to what we originally saw with arginine.

The proper functioning of this cycle is so important for the vascular sytem as well as all other areas mentioned.  I understand we are likely to see huge detox when adding it so not looking forward to that!

BWAlison  

 

Alison,

Diatomaceous earth[DE] is used in animal industry for ammonia control-spread out in the animal stalls etc as well as for bug control. We have used food grade DE to try and rid parasites and clean up gut but I never thought of it for ammonia control until your discussion of the BH4 issue. We've not done the genetic testing but we deal w hyperammonia periodically[hyperventilation is the cue here] and it seems as if the CBS upregulaion applies as well as some of the other Yasko stuff. Plasma methionine is usually in the red low. My daughter also has lots of trouble w tyrosine-usually a seizure provoker, whilst the doc encourages it for hypothyroid. Been trying to get a handle on this and the light finally went on with your post. Anyway, I was just wondering if anyone has used the DE for ammonia and what results. Was thinking that if the DE mopped enough of the gut ammonia that BH4 would be available systemically in other critical parts of the body to do its job-very unscientific, I know.

> > >

> > > Well done for keeping on keeping on Alison,you are doing great job

> > >

> > > Mx

> > >

> > >

> > > In a message dated 10/12/2011 08:48:22 GMT Standard Time,

> > > rowbotham.alison@ writes:

> > >

> > >

> > >

> > >

> > > Thought it would be useful to update on our recent metabolic appt. Hope

> > > you're reading this Nevin. (sorry this is long)

> > >

> > > Saw NHS metabolic consultant and presented YASKO genetic results along

> > > with clinical tests done at Breakspear (methylation panel) to show

> > suggested

> > > genetic predisposition and actual clinical situation.

> > >

> > > Concentrated on CBS upregualtion and probable low BH4(as these are key

> > to

> > > my 2 kids).

> > >

> > > Dr (although very nice) was not aware of a role of BH4 in elimination of

> > > ammonia - this worries me as it is well documented and you don't have to

> > > look far to find this info. Apparantly they can test BH4 levels with a

> > finger

> > > prick and send card to switzerland (this would usually be for PKU

> > patients)

> > > I didn't push for this test as we are considering doing it at

> > Breakspear.

> > > If we do test we also need to test for BH2 conversion to BH4 not just

> > > overall BH4 levels. We have also been working hard to increase BH4

> > naturally for

> > > last 6 months and I thought if they did test and result is not too low

> > it w

> > > ould discredit all I was presenting.

> > >

> > > He kept comparing to PKU patients who are low in BH4 and said they did

> > not

> > > have urea cycle problems. I could not drum in that this was probably

> > > because they don't have the other problems causing the big increase in

> > ammonia.

> > >

> > > He said that urine ammonia levels were not accurate and they would only

> > > look at blood - again I could not get it through to him that we also

> > need to

> > > look at what the body is eliminating. Even if blood levels are not

> > > elevated, if ammonia is continually produced at higher levels what

> > effect does this

> > > have on the body i.e low levels of BH4 and kidney stress. The symptoms

> > my

> > > kids suffer are not high ammonia - they are low BH$ because of having to

> > > remove too much ammonia!!!

> > >

> > > In relation to CBS upregulation, he read the info and said if this was

> > the

> > > case we would see low methionine on amino acid test. At this point I

> > > handed urine amino acid tests for both kids showing very low methionine

> > - he

> > > started to listen but then said again they would only consider blood

> > results.

> > > He actually did blood AA's on my kids last year and methionine was only

> > 14.

> > > This actually confirmed the problem with NHS testing - their range for

> > > methionine is from 0 so if someone has continually low methionine unless

> > this

> > > is been looked for it would not get picked up.

> > >

> > > He did confirm that continual low methionine needed treatment (this is

> > why

> > > Breakspear have suggested methyl B12 injections). I asked if he would do

> > > bloods to check and he agreed but only when the Kids are having venous

> > > sample taken for something else.

> > >

> > > I plan to write to him asking for these tests to be done straight away

> > as

> > > otherwise we will have corrected it AGAIN taking any resposibility from

> > NHS.

> > >

> > > For Charlie (asd) I am quite happy to go this journey without NHS input

> > > but for my daughter who has blood disorder I can't. She is under so

> > many

> > > consultants I have no choice but to tell them what I am doing. The YASKO

> > > testing has uncovered how to help her blood disorder by bypassing her

> > gentic

> > > mutations and I'm determined to make them treat her (LOL!!!)

> > >

> > > I have also eventually managed to get some BH4 - currently in freezer,

> > > waiting until after Christmas to be brave enough to try (understand can

> > cause

> > > huge detox initially)!.

> > >

> > > Have appt with genetics just after Christmas to investigate link with

> > > Charlie (asd) and , (blood disorder no asd but lots of asd traits).

> > In our

> > > case they are definitely connected and both a result of biochemical

> > > inbalances/errors.

> > >

> > > BW

> > >

> > > Alison R

> > >

> >

> >

> >

>

[Guest guest]

This is really interesting as I understand gut bugs can cause same presentation as CBS up regulation even if you do not have the SNP.  I think this is related to sulphur feeding the bugs.I also understand that BH4 is responsible for neurotransmitter balance and plays a huge role in other hormones - may be worth looking at this further.

When we have spoke previously I have felt my daughter and your daughter have some similarities.  A couple of years ago we put on arginine as it was recommended on her organic acids test to reduce ammonia.  She was fantastic whilst on this.  Her anxiety totally disappeared, she got a sparkle back in her eye, was generally happier, excelled at school, had improved tolerence to sports and from a blood disorder point of view she stopped needing blood transfusions.

During this time the marker on her ONE tests improved particulary citric acid cycle and neurotransmitter balance.We had to stop the arginine last october as she had a primary herpes infection and arginine can feed herpes.  I have since learned that the balance of arginine to BH4 is very important and if there is not enough BH4 toxic forms of nitric oxide is produced which causes oxidative stress.  

Through YASKO I have learned that BH4 is the rate limiting factor for the urea cycle and is at the start point - one step before arginine.  I am hoping once we add BH4 we will see similar positives to what we originally saw with arginine.

The proper functioning of this cycle is so important for the vascular sytem as well as all other areas mentioned.  I understand we are likely to see huge detox when adding it so not looking forward to that!

BWAlison  

 

Alison,

Diatomaceous earth[DE] is used in animal industry for ammonia control-spread out in the animal stalls etc as well as for bug control. We have used food grade DE to try and rid parasites and clean up gut but I never thought of it for ammonia control until your discussion of the BH4 issue. We've not done the genetic testing but we deal w hyperammonia periodically[hyperventilation is the cue here] and it seems as if the CBS upregulaion applies as well as some of the other Yasko stuff. Plasma methionine is usually in the red low. My daughter also has lots of trouble w tyrosine-usually a seizure provoker, whilst the doc encourages it for hypothyroid. Been trying to get a handle on this and the light finally went on with your post. Anyway, I was just wondering if anyone has used the DE for ammonia and what results. Was thinking that if the DE mopped enough of the gut ammonia that BH4 would be available systemically in other critical parts of the body to do its job-very unscientific, I know.

> > >

> > > Well done for keeping on keeping on Alison,you are doing great job

> > >

> > > Mx

> > >

> > >

> > > In a message dated 10/12/2011 08:48:22 GMT Standard Time,

> > > rowbotham.alison@ writes:

> > >

> > >

> > >

> > >

> > > Thought it would be useful to update on our recent metabolic appt. Hope

> > > you're reading this Nevin. (sorry this is long)

> > >

> > > Saw NHS metabolic consultant and presented YASKO genetic results along

> > > with clinical tests done at Breakspear (methylation panel) to show

> > suggested

> > > genetic predisposition and actual clinical situation.

> > >

> > > Concentrated on CBS upregualtion and probable low BH4(as these are key

> > to

> > > my 2 kids).

> > >

> > > Dr (although very nice) was not aware of a role of BH4 in elimination of

> > > ammonia - this worries me as it is well documented and you don't have to

> > > look far to find this info. Apparantly they can test BH4 levels with a

> > finger

> > > prick and send card to switzerland (this would usually be for PKU

> > patients)

> > > I didn't push for this test as we are considering doing it at

> > Breakspear.

> > > If we do test we also need to test for BH2 conversion to BH4 not just

> > > overall BH4 levels. We have also been working hard to increase BH4

> > naturally for

> > > last 6 months and I thought if they did test and result is not too low

> > it w

> > > ould discredit all I was presenting.

> > >

> > > He kept comparing to PKU patients who are low in BH4 and said they did

> > not

> > > have urea cycle problems. I could not drum in that this was probably

> > > because they don't have the other problems causing the big increase in

> > ammonia.

> > >

> > > He said that urine ammonia levels were not accurate and they would only

> > > look at blood - again I could not get it through to him that we also

> > need to

> > > look at what the body is eliminating. Even if blood levels are not

> > > elevated, if ammonia is continually produced at higher levels what

> > effect does this

> > > have on the body i.e low levels of BH4 and kidney stress. The symptoms

> > my

> > > kids suffer are not high ammonia - they are low BH$ because of having to

> > > remove too much ammonia!!!

> > >

> > > In relation to CBS upregulation, he read the info and said if this was

> > the

> > > case we would see low methionine on amino acid test. At this point I

> > > handed urine amino acid tests for both kids showing very low methionine

> > - he

> > > started to listen but then said again they would only consider blood

> > results.

> > > He actually did blood AA's on my kids last year and methionine was only

> > 14.

> > > This actually confirmed the problem with NHS testing - their range for

> > > methionine is from 0 so if someone has continually low methionine unless

> > this

> > > is been looked for it would not get picked up.

> > >

> > > He did confirm that continual low methionine needed treatment (this is

> > why

> > > Breakspear have suggested methyl B12 injections). I asked if he would do

> > > bloods to check and he agreed but only when the Kids are having venous

> > > sample taken for something else.

> > >

> > > I plan to write to him asking for these tests to be done straight away

> > as

> > > otherwise we will have corrected it AGAIN taking any resposibility from

> > NHS.

> > >

> > > For Charlie (asd) I am quite happy to go this journey without NHS input

> > > but for my daughter who has blood disorder I can't. She is under so

> > many

> > > consultants I have no choice but to tell them what I am doing. The YASKO

> > > testing has uncovered how to help her blood disorder by bypassing her

> > gentic

> > > mutations and I'm determined to make them treat her (LOL!!!)

> > >

> > > I have also eventually managed to get some BH4 - currently in freezer,

> > > waiting until after Christmas to be brave enough to try (understand can

> > cause

> > > huge detox initially)!.

> > >

> > > Have appt with genetics just after Christmas to investigate link with

> > > Charlie (asd) and , (blood disorder no asd but lots of asd traits).

> > In our

> > > case they are definitely connected and both a result of biochemical

> > > inbalances/errors.

> > >

> > > BW

> > >

> > > Alison R

> > >

> >

> >

> >

>

[Guest guest]

This is really interesting as I understand gut bugs can cause same presentation as CBS up regulation even if you do not have the SNP.  I think this is related to sulphur feeding the bugs.I also understand that BH4 is responsible for neurotransmitter balance and plays a huge role in other hormones - may be worth looking at this further.

When we have spoke previously I have felt my daughter and your daughter have some similarities.  A couple of years ago we put on arginine as it was recommended on her organic acids test to reduce ammonia.  She was fantastic whilst on this.  Her anxiety totally disappeared, she got a sparkle back in her eye, was generally happier, excelled at school, had improved tolerence to sports and from a blood disorder point of view she stopped needing blood transfusions.

During this time the marker on her ONE tests improved particulary citric acid cycle and neurotransmitter balance.We had to stop the arginine last october as she had a primary herpes infection and arginine can feed herpes.  I have since learned that the balance of arginine to BH4 is very important and if there is not enough BH4 toxic forms of nitric oxide is produced which causes oxidative stress.  

Through YASKO I have learned that BH4 is the rate limiting factor for the urea cycle and is at the start point - one step before arginine.  I am hoping once we add BH4 we will see similar positives to what we originally saw with arginine.

The proper functioning of this cycle is so important for the vascular sytem as well as all other areas mentioned.  I understand we are likely to see huge detox when adding it so not looking forward to that!

BWAlison  

 

Alison,

Diatomaceous earth[DE] is used in animal industry for ammonia control-spread out in the animal stalls etc as well as for bug control. We have used food grade DE to try and rid parasites and clean up gut but I never thought of it for ammonia control until your discussion of the BH4 issue. We've not done the genetic testing but we deal w hyperammonia periodically[hyperventilation is the cue here] and it seems as if the CBS upregulaion applies as well as some of the other Yasko stuff. Plasma methionine is usually in the red low. My daughter also has lots of trouble w tyrosine-usually a seizure provoker, whilst the doc encourages it for hypothyroid. Been trying to get a handle on this and the light finally went on with your post. Anyway, I was just wondering if anyone has used the DE for ammonia and what results. Was thinking that if the DE mopped enough of the gut ammonia that BH4 would be available systemically in other critical parts of the body to do its job-very unscientific, I know.

> > >

> > > Well done for keeping on keeping on Alison,you are doing great job

> > >

> > > Mx

> > >

> > >

> > > In a message dated 10/12/2011 08:48:22 GMT Standard Time,

> > > rowbotham.alison@ writes:

> > >

> > >

> > >

> > >

> > > Thought it would be useful to update on our recent metabolic appt. Hope

> > > you're reading this Nevin. (sorry this is long)

> > >

> > > Saw NHS metabolic consultant and presented YASKO genetic results along

> > > with clinical tests done at Breakspear (methylation panel) to show

> > suggested

> > > genetic predisposition and actual clinical situation.

> > >

> > > Concentrated on CBS upregualtion and probable low BH4(as these are key

> > to

> > > my 2 kids).

> > >

> > > Dr (although very nice) was not aware of a role of BH4 in elimination of

> > > ammonia - this worries me as it is well documented and you don't have to

> > > look far to find this info. Apparantly they can test BH4 levels with a

> > finger

> > > prick and send card to switzerland (this would usually be for PKU

> > patients)

> > > I didn't push for this test as we are considering doing it at

> > Breakspear.

> > > If we do test we also need to test for BH2 conversion to BH4 not just

> > > overall BH4 levels. We have also been working hard to increase BH4

> > naturally for

> > > last 6 months and I thought if they did test and result is not too low

> > it w

> > > ould discredit all I was presenting.

> > >

> > > He kept comparing to PKU patients who are low in BH4 and said they did

> > not

> > > have urea cycle problems. I could not drum in that this was probably

> > > because they don't have the other problems causing the big increase in

> > ammonia.

> > >

> > > He said that urine ammonia levels were not accurate and they would only

> > > look at blood - again I could not get it through to him that we also

> > need to

> > > look at what the body is eliminating. Even if blood levels are not

> > > elevated, if ammonia is continually produced at higher levels what

> > effect does this

> > > have on the body i.e low levels of BH4 and kidney stress. The symptoms

> > my

> > > kids suffer are not high ammonia - they are low BH$ because of having to

> > > remove too much ammonia!!!

> > >

> > > In relation to CBS upregulation, he read the info and said if this was

> > the

> > > case we would see low methionine on amino acid test. At this point I

> > > handed urine amino acid tests for both kids showing very low methionine

> > - he

> > > started to listen but then said again they would only consider blood

> > results.

> > > He actually did blood AA's on my kids last year and methionine was only

> > 14.

> > > This actually confirmed the problem with NHS testing - their range for

> > > methionine is from 0 so if someone has continually low methionine unless

> > this

> > > is been looked for it would not get picked up.

> > >

> > > He did confirm that continual low methionine needed treatment (this is

> > why

> > > Breakspear have suggested methyl B12 injections). I asked if he would do

> > > bloods to check and he agreed but only when the Kids are having venous

> > > sample taken for something else.

> > >

> > > I plan to write to him asking for these tests to be done straight away

> > as

> > > otherwise we will have corrected it AGAIN taking any resposibility from

> > NHS.

> > >

> > > For Charlie (asd) I am quite happy to go this journey without NHS input

> > > but for my daughter who has blood disorder I can't. She is under so

> > many

> > > consultants I have no choice but to tell them what I am doing. The YASKO

> > > testing has uncovered how to help her blood disorder by bypassing her

> > gentic

> > > mutations and I'm determined to make them treat her (LOL!!!)

> > >

> > > I have also eventually managed to get some BH4 - currently in freezer,

> > > waiting until after Christmas to be brave enough to try (understand can

> > cause

> > > huge detox initially)!.

> > >

> > > Have appt with genetics just after Christmas to investigate link with

> > > Charlie (asd) and , (blood disorder no asd but lots of asd traits).

> > In our

> > > case they are definitely connected and both a result of biochemical

> > > inbalances/errors.

> > >

> > > BW

> > >

> > > Alison R

> > >

> >

> >

> >

>

[Guest guest]

Just shave a tiny bit off the tab with a knife or your thumb nail and put back in the freezer. A few grains produced mega detox here so slowly slowly is the way to go

Mandi x

I understand we are likely to see huge detox when adding it so not looking forward to that!

[Guest guest]

Just shave a tiny bit off the tab with a knife or your thumb nail and put back in the freezer. A few grains produced mega detox here so slowly slowly is the way to go

Mandi x

I understand we are likely to see huge detox when adding it so not looking forward to that!

[Guest guest]

Just shave a tiny bit off the tab with a knife or your thumb nail and put back in the freezer. A few grains produced mega detox here so slowly slowly is the way to go

Mandi x

I understand we are likely to see huge detox when adding it so not looking forward to that!

[Guest guest]

The end result of successful Yasko is detoxing on their own, Sandy and Tim saw this with eddy, they had previously done some 15 AC rounds or so with ALA but when all his cycles were spinning properly and methylation effective. The AC would have kicked off the detox, Yasko made it happen efficeintly and is Eddies case very effectively having lost his Dx.

I remember an old OAT saying extra B2 which is reboflavin (?sp) and he's already on megadose of 100mg per day, I might try giving him more at weekends, he's had a seizure two weekends in a row I Shall be asking paed about trial of Lamtical in new year, frequency and severity is rising now

Mandi x

She wrote a word" ...as he is excreting well without methylation,so there may be a jump in excration with methylation.... This is complicated,I need more understanding how could it be possible if one pathway doesn't work properly, how can he eliminate the metals if he has, ofcourse he has..If anyone would like to make a comment, please do.

[Guest guest]

The end result of successful Yasko is detoxing on their own, Sandy and Tim saw this with eddy, they had previously done some 15 AC rounds or so with ALA but when all his cycles were spinning properly and methylation effective. The AC would have kicked off the detox, Yasko made it happen efficeintly and is Eddies case very effectively having lost his Dx.

I remember an old OAT saying extra B2 which is reboflavin (?sp) and he's already on megadose of 100mg per day, I might try giving him more at weekends, he's had a seizure two weekends in a row I Shall be asking paed about trial of Lamtical in new year, frequency and severity is rising now

Mandi x

She wrote a word" ...as he is excreting well without methylation,so there may be a jump in excration with methylation.... This is complicated,I need more understanding how could it be possible if one pathway doesn't work properly, how can he eliminate the metals if he has, ofcourse he has..If anyone would like to make a comment, please do.

[Guest guest]

The end result of successful Yasko is detoxing on their own, Sandy and Tim saw this with eddy, they had previously done some 15 AC rounds or so with ALA but when all his cycles were spinning properly and methylation effective. The AC would have kicked off the detox, Yasko made it happen efficeintly and is Eddies case very effectively having lost his Dx.

I remember an old OAT saying extra B2 which is reboflavin (?sp) and he's already on megadose of 100mg per day, I might try giving him more at weekends, he's had a seizure two weekends in a row I Shall be asking paed about trial of Lamtical in new year, frequency and severity is rising now

Mandi x

She wrote a word" ...as he is excreting well without methylation,so there may be a jump in excration with methylation.... This is complicated,I need more understanding how could it be possible if one pathway doesn't work properly, how can he eliminate the metals if he has, ofcourse he has..If anyone would like to make a comment, please do.

[Guest guest]

And because Ronnie had the ALA before he will be carrying on detoxing by himself for a good two years after that, chelation makesthe journey more comfortable but lik eyou the seizures worry me, don;t know what it is but sometimes I look at him when he comes home and just think, nah, no round this weekend. He had seizures those weekends but has never had one on round yet. Then I think maybe he is having seizure because we are NOT chelating, oh woe is me

Mandi x

The end result of successful Yasko is detoxing on their own, Sandy and Tim saw this with eddy, they had previously done some 15 AC rounds or so with ALA but when all his cycles were spinning properly and methylation effective. The AC would have kicked off the detox, Yasko made it happen efficeintly and is Eddies case very effectively having lost his Dx.

I remember an old OAT saying extra B2 which is reboflavin (?sp) and he's already on megadose of 100mg per day, I might try giving him more at weekends, he's had a seizure two weekends in a row I Shall be asking paed about trial of Lamtical in new year, frequency and severity is rising now

Mandi x

She wrote a word" ...as he is excreting well without methylation,so there may be a jump in excration with methylation.... This is complicated,I need more understanding how could it be possible if one pathway doesn't work properly, how can he eliminate the metals if he has, ofcourse he has..If anyone would like to make a comment, please do.

[Guest guest]

And because Ronnie had the ALA before he will be carrying on detoxing by himself for a good two years after that, chelation makesthe journey more comfortable but lik eyou the seizures worry me, don;t know what it is but sometimes I look at him when he comes home and just think, nah, no round this weekend. He had seizures those weekends but has never had one on round yet. Then I think maybe he is having seizure because we are NOT chelating, oh woe is me

Mandi x

The end result of successful Yasko is detoxing on their own, Sandy and Tim saw this with eddy, they had previously done some 15 AC rounds or so with ALA but when all his cycles were spinning properly and methylation effective. The AC would have kicked off the detox, Yasko made it happen efficeintly and is Eddies case very effectively having lost his Dx.

I remember an old OAT saying extra B2 which is reboflavin (?sp) and he's already on megadose of 100mg per day, I might try giving him more at weekends, he's had a seizure two weekends in a row I Shall be asking paed about trial of Lamtical in new year, frequency and severity is rising now

Mandi x

She wrote a word" ...as he is excreting well without methylation,so there may be a jump in excration with methylation.... This is complicated,I need more understanding how could it be possible if one pathway doesn't work properly, how can he eliminate the metals if he has, ofcourse he has..If anyone would like to make a comment, please do.

[Guest guest]

And because Ronnie had the ALA before he will be carrying on detoxing by himself for a good two years after that, chelation makesthe journey more comfortable but lik eyou the seizures worry me, don;t know what it is but sometimes I look at him when he comes home and just think, nah, no round this weekend. He had seizures those weekends but has never had one on round yet. Then I think maybe he is having seizure because we are NOT chelating, oh woe is me

Mandi x

The end result of successful Yasko is detoxing on their own, Sandy and Tim saw this with eddy, they had previously done some 15 AC rounds or so with ALA but when all his cycles were spinning properly and methylation effective. The AC would have kicked off the detox, Yasko made it happen efficeintly and is Eddies case very effectively having lost his Dx.

I remember an old OAT saying extra B2 which is reboflavin (?sp) and he's already on megadose of 100mg per day, I might try giving him more at weekends, he's had a seizure two weekends in a row I Shall be asking paed about trial of Lamtical in new year, frequency and severity is rising now

Mandi x

She wrote a word" ...as he is excreting well without methylation,so there may be a jump in excration with methylation.... This is complicated,I need more understanding how could it be possible if one pathway doesn't work properly, how can he eliminate the metals if he has, ofcourse he has..If anyone would like to make a comment, please do.

[Guest guest]

These are hormone related tests and you should be able to get those on NHS if Goyal asks

Mx

He asked me to mention these tests to Dr..Hormones;Dhea-s L.H Estradiol Free testesterone S.H.B.Q..I don't know what it means all but I will ask to drGoyal in January.