Re: Vomiting, Complex I def.

[Guest guest]

Cheri, you say there is a blood test for complex 1 def.

Is this the pyruvate dehydrogenase thing?-no time to look it all up, I'm

sorry and I can't remember which disorder is which.

talking to Dr. about pacemaker tomorrow and I'm trying to get infor.

ready for her to take into Kaiser. S.

Re: Vomiting, Complex I def.

>From: CRobi59234@...

>

>

>

>

>> Though white blood cells do have mitochondria in them and you can

probably

>>isolate them for testing, I can't say (not an expert at this)

>

>Hey Ken,

>

>there is a blood test for complex one deficiency.

>

>Cheri

>

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>

[Guest guest]

I'm running in for lab work to see if he has acidosis since he is

still vomiting a wk after the flu (which really was since the other family

got it). But he has done his usual with never quit and he is pale and

blueish (like when you have asthma around the mouth and forehead, etc.) ,

mom hasn't noticed any funny breathing (Shenan & I sometimes do the Kussmal

breathing), but is not lethargic although he is acting silly like a

drunk person-his mom is going " What the heck? " . Maybe ADHD people with

acidosis get weird instead of tired?? I hope they run the right tests. The

Dr. he sees isn't in and says he is still waiting for Bruce Cohen to email

him back with the mito testing procedures.

My son (his dad) does the reflux thing.

Anyone who cares to comment on this whole situation would be appreciated.

S.

Vomiting, Complex I def.

>From: mitodad@...

>

>,

>

>Based on what you describe as " freqent flus " , I'd have to wonder about

acidosis, chronic vomiting, reflux(GERD), and other rarer entities like

cyclic vomiting. There is no real test to look at all the many types of

viruses that cause vomiting. Also, the only virus that usually affects

infants and toddlers for about 2-1/2 weeks with both vomiting and diarrhea

is Rotavirus (serotypes A,B,C,D). Have the docs thought about other

possibilities and looking in to things? Just some ideas.

>

>----------------

>

>,

>

>Being of the same profession (and no apologies for your feelings or anyone

else on this list because there are too many docs that don't know how to

deal with people) I have one ? How was the diagnosis of Complex I deficiency

made? There are no blood tests for measuring respiratory chain enzyme

activity other than to isolate mitochondria from the cell and to test them.

Though white blood cells do have mitochondria in them and you can probably

isolate them for testing, I can't say (not an expert at this) that many labs

test enzymes with blood or otherwise, many patients wouldn't have to undergo

biopsies (usually muscle and with certain problems with pyruvate metabolism

a skin biopsy would also be used). I don't mean to upset the applecart, but

extremely curious how the diagnosis was made without a biopsy in the first

place. On the flip side, having a diagnosis helps to deal with all the

anxieties of the unknown, but usually doesn't change treatments and outcomes

all that much.

>

>If you get a chance, can you please elaborate on how the diagnosis was

made.

>

>Thanks

>

>-----------------

>Ken

>

>

>------------------------------------------------------------------------

>

[Guest guest]

> Though white blood cells do have mitochondria in them and you can probably

>isolate them for testing, I can't say (not an expert at this)

Hey Ken,

there is a blood test for complex one deficiency.

Cheri

[Guest guest]

Cheri,

My daughter has 0 Complex 1 per her muscle biopsy. All blood tests that were

done on her prior to the biopsy were normal, including the MERFF/MELAS testing

that was done by athena labs. What blood test is available that would show a

complex one deficiency? I haven't heard of this.

Thanks for the info.

Barbara

mom to Alison/21/melas/liver transplant due to depakote toxicity

In a message dated 3/3/99 8:15 Eastern Standard Time, CRobi59234@...

writes:

> there is a blood test for complex one deficiency.

>

> Cheri

[Guest guest]

CRobi59234@... wrote:

> Hey Ken,

>

> there is a blood test for complex one deficiency.

Cheri, is there a blood test for complex one deficiency or is there a blood

test for the common genetic

defects that cause complex one deficiency? I haven't ever hear that you could

diagnose a respiratory

chain defect such as complex one with a blood test, is this new? If this is the

case, it would really

stream line mito evaluations since complex one is supposed to be the most common

defect.

When did all of this come about? And where can the test be done?

Jeannine

[Guest guest]

What is the test for Complex One deficiency?

> Re: Vomiting, Complex I def.

>

> From: CRobi59234@...

>

>

>

>

> > Though white blood cells do have mitochondria in them and you can

> probably

> >isolate them for testing, I can't say (not an expert at this)

>

> Hey Ken,

>

> there is a blood test for complex one deficiency.

>

> Cheri

>

> ------------------------------------------------------------------------

> Did you know that we have over 85,000 e-mail communities at Onelist?

> http://www.onelist.com

> Come visit our new web site and explore a new interest

> ------------------------------------------------------------------------

> Brought to you by www.imdn.org - an on-line support group for those

> affected by mitochondrial disease.

[Guest guest]

Hi ,

The test for complex 1 (as well as other complexes) is a blood test.

It's a complicated test, I've read how they do it and the last time I knew,

it cost about $500. I'm sure there are only a few labs in the country that

can do it properly.

Sue ( & Jack)-worn out parents to the greatest kids on earth--

Chris-8: Leigh's Disease, MR (mild), hypotonia, non-walker/talker

-7: Leigh's Disease, MR (mild), hypotonia, non-walker/talker, trach

tube (tracheomalasia), g-tube/fundo http://jscb.home.mindspring.com

>From: .camp-@...

>

>What is the test for Complex One deficiency?

[Guest guest]

Dear Cheri and Sue:

If you have more information, please let me know. We see our mito

doctor Monday and I want to ask if Ken has had this test or can get it

ASAP.

Thanks.

Sue ELlen

[Guest guest]

Hi Sue Ellen,

That blood test was one of several tests had. I thought it was a

routine one for looking for mito disorders. Or at least looking for

Leigh's. had his done at UCSD by Dr. Haas. I just read the report

again and 's blood was tested for Common MELAS np 3243 A to G, MERRF np

8344 A to G, NARP np 8993 T to G, and Common deletion (4.977 bp). All those

were negative. Now I don't know if all those tests are part of the electron

transport complexes tests or if they are different so I don't know if

was tested for the complexes per se. However, attached to the lab report

was a price sheet and an explanation of what is tested for an how it's done.

Just to prepare the blood for this test was $400. Then each test has it's

own price. Now keep in mind these prices are from 1993. Did that help you

any? If you need anything more, please let me know.

Sue ( & Jack)-worn out parents to the greatest kids on earth--

Chris-8: Leigh's Disease, MR (mild), hypotonia, non-walker/talker

-7: Leigh's Disease, MR (mild), hypotonia, non-walker/talker, trach

tube (tracheomalasia), g-tube/fundo http://jscb.home.mindspring.com

[Guest guest]

>

>My daughter has 0 Complex 1 per her muscle biopsy. All blood tests that

>were

>done on her prior to the biopsy were normal, including the MERFF/MELAS

>testing

>that was done by athena labs. What blood test is available that would

>show a

>complex one deficiency? I haven't heard of this.

>

MERRF and MELAS are diagnosed by specific mtDNA mutations. Complex 1

deficiency is measured in blood by a blood test that determines if one is

Complex 1 deficient. You can have MERRF or MELAS and not be Complex 1

deficient and vice versa.

Cheri

[Guest guest]

Dear Sue:

Ken has had the southern blotting test which tested for MERFF, MELAS and

NARP, as well as about 11 other known common mito. disorders but it

tests only known errors, not the whole spectrum of Complex I. It is

looking for known mutations at the specific points you mentioned. If

this is the test, I think Ken had it and it didn't show any of the 14

tested errors.

If you have more on this, please let me know. Thanks for the info.

jscb@... wrote:

>

> From: jscb@...

>

> Hi Sue Ellen,

> That blood test was one of several tests had. I thought it was a

> routine one for looking for mito disorders. Or at least looking for

> Leigh's. had his done at UCSD by Dr. Haas. I just read the report

> again and 's blood was tested for Common MELAS np 3243 A to G, MERRF np

> 8344 A to G, NARP np 8993 T to G, and Common deletion (4.977 bp). All those

> were negative. Now I don't know if all those tests are part of the electron

> transport complexes tests or if they are different so I don't know if

> was tested for the complexes per se. However, attached to the lab report

> was a price sheet and an explanation of what is tested for an how it's done.

> Just to prepare the blood for this test was $400. Then each test has it's

> own price. Now keep in mind these prices are from 1993. Did that help you

> any? If you need anything more, please let me know.

>

> Sue ( & Jack)-worn out parents to the greatest kids on earth--

> Chris-8: Leigh's Disease, MR (mild), hypotonia, non-walker/talker

> -7: Leigh's Disease, MR (mild), hypotonia, non-walker/talker, trach

> tube (tracheomalasia), g-tube/fundo http://jscb.home.mindspring.com

>

> ------------------------------------------------------------------------

> Did you know that we have over 85,000 e-mail communities at Onelist?

> http://www.onelist.com

> Come visit our new web site and explore a new interest

> ------------------------------------------------------------------------

> Brought to you by www.imdn.org - an on-line support group for those affected

by mitochondrial disease.

[Guest guest]

Hi Sue Ellen,

I wonder if my kids had that Southern Blotting test? I've never heard

of it but I would ASSUME they did. Of course we all know what happens when

you assume. ) I don't know for sure if (but I doubt it) had the

test for the complexes, but according to that report I have, they can use

the mitochondria from blood to do it. The paper explained how they prepare

the blood and then extract the mitochondria then do what ever they do to it

for each complex. Sounds long and complicated. AND expensive! ) But it

did say it measured the complexes activities. It didn't sound like they

just tested for known defects. If you want a copy of the sheet I'm talking

about and have a fax, I could fax it to you. Just let me know.

Sue ( & Jack)-worn out parents to the greatest kids on earth--

Chris-8: Leigh's Disease, MR (mild), hypotonia, non-walker/talker

-7: Leigh's Disease, MR (mild), hypotonia, non-walker/talker, trach

tube (tracheomalasia), g-tube/fundo http://jscb.home.mindspring.com

[Guest guest]

-

My older son had problems similar to . Whenever he started vomiting from

whatever cause (gagging,

flu, whatever) he would not stop without a suppository. This lasted until he was

about 15. The doctor

said he had a sensitive stomach. This is true, but I also think it probably set

off some autonomic stuff.

Laurie

> I'm running in for lab work to see if he has acidosis since he is

> still vomiting a wk after the flu (which really was since the other family

> got it). But he has done his usual with never quit and he is pale and

> blueish (like when you have asthma around the mouth and forehead, etc.) ,

> mom hasn't noticed any funny breathing (Shenan & I sometimes do the Kussmal

> breathing), but is not lethargic although he is acting silly like a

> drunk person-his mom is going " What the heck? " . Maybe ADHD people with

> acidosis get weird instead of tired?? I hope they run the right tests. The

> Dr. he sees isn't in and says he is still waiting for Bruce Cohen to email

> him back with the mito testing procedures.

> My son (his dad) does the reflux thing.

> Anyone who cares to comment on this whole situation would be appreciated.

> S.

[Guest guest]

Laurie, thanks for answering.

I would say has a weak stomach if I didn't know what else to say

either. Poor Dr.s can't figure us strange people out, huh? They keep telling

me modern science hasn't come far enough but my feeling is they are not

utilizing all that modern science HAS come far enough in or hey, how about

using our families and testing and documenting on us to bring science

forward!!

They took urine and drew blood at which it took 4 of us to hold him down

with him screaming at the top of his lungs. He was lethargic, don't know why

his mom told me no-he was almost limp to me compared to his usual hyper

stiffness. And he is acting strange.We'll see what they come up with.

Also, my heart is getting worse (way too many times a day with the fast

beating) and I am so short of breath over doing nothing (like walking from

room to room) I will ask them Wed. at 's appt. about checking it out

again. S.

Re: Vomiting, Complex I def.

>

>

>-

>

>My older son had problems similar to . Whenever he started vomiting

from whatever cause (gagging,

>flu, whatever) he would not stop without a suppository. This lasted until

he was about 15. The doctor

>said he had a sensitive stomach. This is true, but I also think it probably

set off some autonomic stuff.

>

>Laurie

>

>> I'm running in for lab work to see if he has acidosis since he is

>> still vomiting a wk after the flu (which really was since the other

family

>> got it). But he has done his usual with never quit and he is pale and

>> blueish (like when you have asthma around the mouth and forehead, etc.) ,

>> mom hasn't noticed any funny breathing (Shenan & I sometimes do the

Kussmal

>> breathing), but is not lethargic although he is acting silly like a

>> drunk person-his mom is going " What the heck? " . Maybe ADHD people with

>> acidosis get weird instead of tired?? I hope they run the right tests.

The

>> Dr. he sees isn't in and says he is still waiting for Bruce Cohen to

email

>> him back with the mito testing procedures.

>> My son (his dad) does the reflux thing.

>> Anyone who cares to comment on this whole situation would be appreciated.

>> S.

>

>

>

>

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affected by mitochondrial disease.

>