Re: My inconclusive results

[Guest guest]

Mike

I once had the diagnosis of a CPT II defect. Barbara has this and would be

much better at explaining it.

The heterozygote state means that the defect is found in some cells and not

in others. This is what they mean by a partial deficiency. Homozygote is

when all cells are affected the same. Most metabolic conditions are thought

to be heterozygote as far as I know.

laurie

>

> Reply-To:

> Date: Fri, 11 Jul 2003 20:25:21 -0000

> To:

> Subject: My " inconclusive " results

>

> Got the text from my muscle biopsy labs. Apparently, they are doing

> some more testing. I'll clip out the raw data, and give the

> interpretation. Can anyone tell me what this means for me? I'm only

> showing the abnormal labs:

>

> Interpretation:

> The yield of mitochortdrial protein from the skeletal muscle biopsy

> specimen is normal relative to prior controls, The ADP~stimulated

> (State 3) rates of subtrate oxidation were evaluated using various

> substrates that utilize dilferent dehydrogenases and provide reducing

> equivaiants that enter the mitoohondriai electron transport chain at

> different locations. Those rates are within the control range for the

> Substrates tested, ***** except for palmitoyl-L-camitine + maleate

> and octanoyl-CoA + carnitine + malate which are 2 SD's below the

> control mean.***** The A0P-stimulated rates (state 3) for the other

> fatty acid substrates tested: octanoyl-L-carnitine + maleate end

> palmitoyl-CoA + carnitine + maleate are within the control range, but

> these rates are at the low end of the control range. The respiratory

> control ratio (RCR= = State 3/State 4; Slate 4 is the ADP-limited

> rate) reflects the integrity of the mitochondria and the coupling of

> oxidative phosphorylalion. These are normal for all substrates. The

> ADP/O ratio (ADP added/oxygen consumed) indicates the efficiency of

> oxidative phosphorylation. These are normal. Maximum rates of

> substrate oxidation were measured in the presence of high

> concentrations of ADP (2 mM). These rates are also normal,

> *****except for palmitoyl-L-carnitine + maleate which 132 SD's bebw

> the control mean.******

>

> In conclusion, these results do not indicate any functional

> abnormality of the five enzyme complexes of mitochondrial oxidative

> phosphorylation. ******* However, the modest decrease in Oxidation of

> palmitoyl-L-carnitine may reflect a partial defect in carnitine

> palmitoyltransferase-II.******** Since acetyl-L-carnitinte oxidation

> is normal the translocase for acyl groups into the mitochondria

> appears intact. I would suggest analysis of cartitine and

> acylcarnitines, especisly long-chain acylcarnitlnes and the activity

> of the carnitinepalmitoyltransferases in the skeletal muscle biopsy.

>

> NEXT LAB IS THE ONE THEY RECOMMENDED ABOVE:

>

> Interpretation:

> The total carnitine palmitoyltransferase (OPT) activities measured

> both in the forward direction and in the backward or reverse reaction

> are below the control ranges relative to prior controls. The activity

> of the malonyl-CoA senative OPT (CPT-l) is In the control range

> relative to prior controls. The activity of citrate synthase, a

> mitochondrial I marker enzyme, is in the control range of our prior

> controls, The content of non-collagen protein (NCP) is in the control

> I range.

>

> These data indicate normal CPT-I, ******but suggest that there is a

> partial defect in CPT-lI in this skeletal muscle specimen.***** This

> is consistent with the heterozygous state.

>

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

>

> What does this mean? What do they mean by, " This is consistent with

> the heterozygous state. " HELP!!!!!!!

>

> I've put in a call to Dr. Shields, but I won't hear from him for a

> while, I'm sure. Your help is GREATLY apprectiated!

>

> Thanks,

>

> Mike

>

>

>

>

>

>

>

>

[Guest guest]

Laurie,

Thank you for your informative response! You said that you once had

this DX, but now you don't? I'm a bit confused. I've read up on

CPT2 and I seem to be missing one of the major symptoms--

myoglobinuria, so maybe that's why my doc feels a little hesitant.

Thanks,

Mike

> Mike

>

> I once had the diagnosis of a CPT II defect. Barbara has this and

would be

> much better at explaining it.

>

> The heterozygote state means that the defect is found in some

cells and not

> in others. This is what they mean by a partial deficiency.

Homozygote is

> when all cells are affected the same. Most metabolic conditions

are thought

> to be heterozygote as far as I know.

>

> laurie

>

> > From: " lord_mike_the_great " <lord_mike_the_great@y...>

> > Reply-To:

> > Date: Fri, 11 Jul 2003 20:25:21 -0000

> > To:

> > Subject: My " inconclusive " results

> >

> > Got the text from my muscle biopsy labs. Apparently, they are

doing

> > some more testing. I'll clip out the raw data, and give the

> > interpretation. Can anyone tell me what this means for me? I'm

only

> > showing the abnormal labs:

> >

> > Interpretation:

> > The yield of mitochortdrial protein from the skeletal muscle

biopsy

> > specimen is normal relative to prior controls, The ADP~stimulated

> > (State 3) rates of subtrate oxidation were evaluated using

various

> > substrates that utilize dilferent dehydrogenases and provide

reducing

> > equivaiants that enter the mitoohondriai electron transport

chain at

> > different locations. Those rates are within the control range

for the

> > Substrates tested, ***** except for palmitoyl-L-camitine +

maleate

> > and octanoyl-CoA + carnitine + malate which are 2 SD's below the

> > control mean.***** The A0P-stimulated rates (state 3) for the

other

> > fatty acid substrates tested: octanoyl-L-carnitine + maleate end

> > palmitoyl-CoA + carnitine + maleate are within the control

range, but

> > these rates are at the low end of the control range. The

respiratory

> > control ratio (RCR= = State 3/State 4; Slate 4 is the ADP-limited

> > rate) reflects the integrity of the mitochondria and the

coupling of

> > oxidative phosphorylalion. These are normal for all substrates.

The

> > ADP/O ratio (ADP added/oxygen consumed) indicates the efficiency

of

> > oxidative phosphorylation. These are normal. Maximum rates of

> > substrate oxidation were measured in the presence of high

> > concentrations of ADP (2 mM). These rates are also normal,

> > *****except for palmitoyl-L-carnitine + maleate which 132 SD's

bebw

> > the control mean.******

> >

> > In conclusion, these results do not indicate any functional

> > abnormality of the five enzyme complexes of mitochondrial

oxidative

> > phosphorylation. ******* However, the modest decrease in

Oxidation of

> > palmitoyl-L-carnitine may reflect a partial defect in carnitine

> > palmitoyltransferase-II.******** Since acetyl-L-carnitinte

oxidation

> > is normal the translocase for acyl groups into the mitochondria

> > appears intact. I would suggest analysis of cartitine and

> > acylcarnitines, especisly long-chain acylcarnitlnes and the

activity

> > of the carnitinepalmitoyltransferases in the skeletal muscle

biopsy.

> >

> > NEXT LAB IS THE ONE THEY RECOMMENDED ABOVE:

> >

> > Interpretation:

> > The total carnitine palmitoyltransferase (OPT) activities

measured

> > both in the forward direction and in the backward or reverse

reaction

> > are below the control ranges relative to prior controls. The

activity

> > of the malonyl-CoA senative OPT (CPT-l) is In the control range

> > relative to prior controls. The activity of citrate synthase, a

> > mitochondrial I marker enzyme, is in the control range of our

prior

> > controls, The content of non-collagen protein (NCP) is in the

control

> > I range.

> >

> > These data indicate normal CPT-I, ******but suggest that there

is a

> > partial defect in CPT-lI in this skeletal muscle specimen.*****

This

> > is consistent with the heterozygous state.

> >

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

> >

> > What does this mean? What do they mean by, " This is consistent

with

> > the heterozygous state. " HELP!!!!!!!

> >

> > I've put in a call to Dr. Shields, but I won't hear from him for

a

> > while, I'm sure. Your help is GREATLY apprectiated!

> >

> > Thanks,

> >

> > Mike

> >

> >

> >

> >

> >

> >

> >

> >

[Guest guest]

Laurie,

Thank you for your informative response! You said that you once had

this DX, but now you don't? I'm a bit confused. I've read up on

CPT2 and I seem to be missing one of the major symptoms--

myoglobinuria, so maybe that's why my doc feels a little hesitant.

Thanks,

Mike

> Mike

>

> I once had the diagnosis of a CPT II defect. Barbara has this and

would be

> much better at explaining it.

>

> The heterozygote state means that the defect is found in some

cells and not

> in others. This is what they mean by a partial deficiency.

Homozygote is

> when all cells are affected the same. Most metabolic conditions

are thought

> to be heterozygote as far as I know.

>

> laurie

>

> > From: " lord_mike_the_great " <lord_mike_the_great@y...>

> > Reply-To:

> > Date: Fri, 11 Jul 2003 20:25:21 -0000

> > To:

> > Subject: My " inconclusive " results

> >

> > Got the text from my muscle biopsy labs. Apparently, they are

doing

> > some more testing. I'll clip out the raw data, and give the

> > interpretation. Can anyone tell me what this means for me? I'm

only

> > showing the abnormal labs:

> >

> > Interpretation:

> > The yield of mitochortdrial protein from the skeletal muscle

biopsy

> > specimen is normal relative to prior controls, The ADP~stimulated

> > (State 3) rates of subtrate oxidation were evaluated using

various

> > substrates that utilize dilferent dehydrogenases and provide

reducing

> > equivaiants that enter the mitoohondriai electron transport

chain at

> > different locations. Those rates are within the control range

for the

> > Substrates tested, ***** except for palmitoyl-L-camitine +

maleate

> > and octanoyl-CoA + carnitine + malate which are 2 SD's below the

> > control mean.***** The A0P-stimulated rates (state 3) for the

other

> > fatty acid substrates tested: octanoyl-L-carnitine + maleate end

> > palmitoyl-CoA + carnitine + maleate are within the control

range, but

> > these rates are at the low end of the control range. The

respiratory

> > control ratio (RCR= = State 3/State 4; Slate 4 is the ADP-limited

> > rate) reflects the integrity of the mitochondria and the

coupling of

> > oxidative phosphorylalion. These are normal for all substrates.

The

> > ADP/O ratio (ADP added/oxygen consumed) indicates the efficiency

of

> > oxidative phosphorylation. These are normal. Maximum rates of

> > substrate oxidation were measured in the presence of high

> > concentrations of ADP (2 mM). These rates are also normal,

> > *****except for palmitoyl-L-carnitine + maleate which 132 SD's

bebw

> > the control mean.******

> >

> > In conclusion, these results do not indicate any functional

> > abnormality of the five enzyme complexes of mitochondrial

oxidative

> > phosphorylation. ******* However, the modest decrease in

Oxidation of

> > palmitoyl-L-carnitine may reflect a partial defect in carnitine

> > palmitoyltransferase-II.******** Since acetyl-L-carnitinte

oxidation

> > is normal the translocase for acyl groups into the mitochondria

> > appears intact. I would suggest analysis of cartitine and

> > acylcarnitines, especisly long-chain acylcarnitlnes and the

activity

> > of the carnitinepalmitoyltransferases in the skeletal muscle

biopsy.

> >

> > NEXT LAB IS THE ONE THEY RECOMMENDED ABOVE:

> >

> > Interpretation:

> > The total carnitine palmitoyltransferase (OPT) activities

measured

> > both in the forward direction and in the backward or reverse

reaction

> > are below the control ranges relative to prior controls. The

activity

> > of the malonyl-CoA senative OPT (CPT-l) is In the control range

> > relative to prior controls. The activity of citrate synthase, a

> > mitochondrial I marker enzyme, is in the control range of our

prior

> > controls, The content of non-collagen protein (NCP) is in the

control

> > I range.

> >

> > These data indicate normal CPT-I, ******but suggest that there

is a

> > partial defect in CPT-lI in this skeletal muscle specimen.*****

This

> > is consistent with the heterozygous state.

> >

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

> >

> > What does this mean? What do they mean by, " This is consistent

with

> > the heterozygous state. " HELP!!!!!!!

> >

> > I've put in a call to Dr. Shields, but I won't hear from him for

a

> > while, I'm sure. Your help is GREATLY apprectiated!

> >

> > Thanks,

> >

> > Mike

> >

> >

> >

> >

> >

> >

> >

> >

[Guest guest]

Mike

I had one needle biopsy and three open ones which all frozen and sent to a

particular lab that we now know was not very reliable. According to one

biopsy (can't remember which one), my son and I had a CPT2 deficency (my

son's much worse than mine), but my sister (on list) had a diagnosis

of a glycogen storage defect. This didn't make sense to a neurologist that

we had recently changed to, so the search began to look for something else.

We were treated for the CPT2 problem for about 2 years. We took the MCT oil

and changed diet. We never had the myoglobinurea. We have never had it with

mito either. My mother (with mito) recently had this when dehydrated, but

she is the only one so far. I am guessing (just a guess) that this symptom

in CPT2 would be dependent on body stress and degree of the defect. If your

defect was only partial, then this symptom might not be present at this

time.

I hope this makes a little bit of sense. I guess I really did confuse the

issue without explaining why my diagnosis was changed. My mito diagnosis was

not made until I had a fresh biopsy that tested for the function of the five

complexes.

laurie

>

> Reply-To:

> Date: Sat, 12 Jul 2003 00:38:55 -0000

> To:

> Subject: Re: My " inconclusive " results

>

> Laurie,

>

> Thank you for your informative response! You said that you once had

> this DX, but now you don't? I'm a bit confused. I've read up on

> CPT2 and I seem to be missing one of the major symptoms--

> myoglobinuria, so maybe that's why my doc feels a little hesitant.

>

> Thanks,

>

> Mike

>

>

>> Mike

>>

>> I once had the diagnosis of a CPT II defect. Barbara has this and

> would be

>> much better at explaining it.

>>

>> The heterozygote state means that the defect is found in some

> cells and not

>> in others. This is what they mean by a partial deficiency.

> Homozygote is

>> when all cells are affected the same. Most metabolic conditions

> are thought

>> to be heterozygote as far as I know.

>>

>> laurie

>>

>>> From: " lord_mike_the_great " <lord_mike_the_great@y...>

>>> Reply-To:

>>> Date: Fri, 11 Jul 2003 20:25:21 -0000

>>> To:

>>> Subject: My " inconclusive " results

>>>

>>> Got the text from my muscle biopsy labs. Apparently, they are

> doing

>>> some more testing. I'll clip out the raw data, and give the

>>> interpretation. Can anyone tell me what this means for me? I'm

> only

>>> showing the abnormal labs:

>>>

>>> Interpretation:

>>> The yield of mitochortdrial protein from the skeletal muscle

> biopsy

>>> specimen is normal relative to prior controls, The ADP~stimulated

>>> (State 3) rates of subtrate oxidation were evaluated using

> various

>>> substrates that utilize dilferent dehydrogenases and provide

> reducing

>>> equivaiants that enter the mitoohondriai electron transport

> chain at

>>> different locations. Those rates are within the control range

> for the

>>> Substrates tested, ***** except for palmitoyl-L-camitine +

> maleate

>>> and octanoyl-CoA + carnitine + malate which are 2 SD's below the

>>> control mean.***** The A0P-stimulated rates (state 3) for the

> other

>>> fatty acid substrates tested: octanoyl-L-carnitine + maleate end

>>> palmitoyl-CoA + carnitine + maleate are within the control

> range, but

>>> these rates are at the low end of the control range. The

> respiratory

>>> control ratio (RCR= = State 3/State 4; Slate 4 is the ADP-limited

>>> rate) reflects the integrity of the mitochondria and the

> coupling of

>>> oxidative phosphorylalion. These are normal for all substrates.

> The

>>> ADP/O ratio (ADP added/oxygen consumed) indicates the efficiency

> of

>>> oxidative phosphorylation. These are normal. Maximum rates of

>>> substrate oxidation were measured in the presence of high

>>> concentrations of ADP (2 mM). These rates are also normal,

>>> *****except for palmitoyl-L-carnitine + maleate which 132 SD's

> bebw

>>> the control mean.******

>>>

>>> In conclusion, these results do not indicate any functional

>>> abnormality of the five enzyme complexes of mitochondrial

> oxidative

>>> phosphorylation. ******* However, the modest decrease in

> Oxidation of

>>> palmitoyl-L-carnitine may reflect a partial defect in carnitine

>>> palmitoyltransferase-II.******** Since acetyl-L-carnitinte

> oxidation

>>> is normal the translocase for acyl groups into the mitochondria

>>> appears intact. I would suggest analysis of cartitine and

>>> acylcarnitines, especisly long-chain acylcarnitlnes and the

> activity

>>> of the carnitinepalmitoyltransferases in the skeletal muscle

> biopsy.

>>>

>>> NEXT LAB IS THE ONE THEY RECOMMENDED ABOVE:

>>>

>>> Interpretation:

>>> The total carnitine palmitoyltransferase (OPT) activities

> measured

>>> both in the forward direction and in the backward or reverse

> reaction

>>> are below the control ranges relative to prior controls. The

> activity

>>> of the malonyl-CoA senative OPT (CPT-l) is In the control range

>>> relative to prior controls. The activity of citrate synthase, a

>>> mitochondrial I marker enzyme, is in the control range of our

> prior

>>> controls, The content of non-collagen protein (NCP) is in the

> control

>>> I range.

>>>

>>> These data indicate normal CPT-I, ******but suggest that there

> is a

>>> partial defect in CPT-lI in this skeletal muscle specimen.*****

> This

>>> is consistent with the heterozygous state.

>>>

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

>>>

>>> What does this mean? What do they mean by, " This is consistent

> with

>>> the heterozygous state. " HELP!!!!!!!

>>>

>>> I've put in a call to Dr. Shields, but I won't hear from him for

> a

>>> while, I'm sure. Your help is GREATLY apprectiated!

>>>

>>> Thanks,

>>>

>>> Mike

>>>

>>>

>>>

>>>

>>>

>>>

>>>

>>>

[Guest guest]

Well, just because you are missing one of the symptoms doesnt necessarily

mean you dont have a certain mito defect. With my family, (knock on wood!)

we have the NARP defect and retinitis pigmentosa is a common symptom (hence

the rp in narp) but none of my family have it! (like I said, knock on wood).

Ours is a documented case, with several members of the family having narp.

> Laurie,

>

> Thank you for your informative response! You said that you once had

> this DX, but now you don't? I'm a bit confused. I've read up on

> CPT2 and I seem to be missing one of the major symptoms--

> myoglobinuria, so maybe that's why my doc feels a little hesitant.

>

> Thanks,

>

> Mike

[Guest guest]

Well, just because you are missing one of the symptoms doesnt necessarily

mean you dont have a certain mito defect. With my family, (knock on wood!)

we have the NARP defect and retinitis pigmentosa is a common symptom (hence

the rp in narp) but none of my family have it! (like I said, knock on wood).

Ours is a documented case, with several members of the family having narp.

> Laurie,

>

> Thank you for your informative response! You said that you once had

> this DX, but now you don't? I'm a bit confused. I've read up on

> CPT2 and I seem to be missing one of the major symptoms--

> myoglobinuria, so maybe that's why my doc feels a little hesitant.

>

> Thanks,

>

> Mike

[Guest guest]

Lauretta,

Forgive me, but I'm still confused. What was your diagnosis changed

to? Is the MCT II DX now gone? My biopsy was done at the Clevleand

Clinic--fresh as can be, so their work is pretty good I hear ;-)

Thanks,

Mike

> >> Mike

> >>

> >> I once had the diagnosis of a CPT II defect. Barbara has this

and

> > would be

> >> much better at explaining it.

> >>

> >> The heterozygote state means that the defect is found in some

> > cells and not

> >> in others. This is what they mean by a partial deficiency.

> > Homozygote is

> >> when all cells are affected the same. Most metabolic conditions

> > are thought

> >> to be heterozygote as far as I know.

> >>

> >> laurie

> >>

> >>> From: " lord_mike_the_great " <lord_mike_the_great@y...>

> >>> Reply-To:

> >>> Date: Fri, 11 Jul 2003 20:25:21 -0000

> >>> To:

> >>> Subject: My " inconclusive " results

> >>>

> >>> Got the text from my muscle biopsy labs. Apparently, they are

> > doing

> >>> some more testing. I'll clip out the raw data, and give the

> >>> interpretation. Can anyone tell me what this means for me?

I'm

> > only

> >>> showing the abnormal labs:

> >>>

> >>> Interpretation:

> >>> The yield of mitochortdrial protein from the skeletal muscle

> > biopsy

> >>> specimen is normal relative to prior controls, The

ADP~stimulated

> >>> (State 3) rates of subtrate oxidation were evaluated using

> > various

> >>> substrates that utilize dilferent dehydrogenases and provide

> > reducing

> >>> equivaiants that enter the mitoohondriai electron transport

> > chain at

> >>> different locations. Those rates are within the control range

> > for the

> >>> Substrates tested, ***** except for palmitoyl-L-camitine +

> > maleate

> >>> and octanoyl-CoA + carnitine + malate which are 2 SD's below

the

> >>> control mean.***** The A0P-stimulated rates (state 3) for the

> > other

> >>> fatty acid substrates tested: octanoyl-L-carnitine + maleate

end

> >>> palmitoyl-CoA + carnitine + maleate are within the control

> > range, but

> >>> these rates are at the low end of the control range. The

> > respiratory

> >>> control ratio (RCR= = State 3/State 4; Slate 4 is the ADP-

limited

> >>> rate) reflects the integrity of the mitochondria and the

> > coupling of

> >>> oxidative phosphorylalion. These are normal for all substrates.

> > The

> >>> ADP/O ratio (ADP added/oxygen consumed) indicates the

efficiency

> > of

> >>> oxidative phosphorylation. These are normal. Maximum rates of

> >>> substrate oxidation were measured in the presence of high

> >>> concentrations of ADP (2 mM). These rates are also normal,

> >>> *****except for palmitoyl-L-carnitine + maleate which 132 SD's

> > bebw

> >>> the control mean.******

> >>>

> >>> In conclusion, these results do not indicate any functional

> >>> abnormality of the five enzyme complexes of mitochondrial

> > oxidative

> >>> phosphorylation. ******* However, the modest decrease in

> > Oxidation of

> >>> palmitoyl-L-carnitine may reflect a partial defect in carnitine

> >>> palmitoyltransferase-II.******** Since acetyl-L-carnitinte

> > oxidation

> >>> is normal the translocase for acyl groups into the mitochondria

> >>> appears intact. I would suggest analysis of cartitine and

> >>> acylcarnitines, especisly long-chain acylcarnitlnes and the

> > activity

> >>> of the carnitinepalmitoyltransferases in the skeletal muscle

> > biopsy.

> >>>

> >>> NEXT LAB IS THE ONE THEY RECOMMENDED ABOVE:

> >>>

> >>> Interpretation:

> >>> The total carnitine palmitoyltransferase (OPT) activities

> > measured

> >>> both in the forward direction and in the backward or reverse

> > reaction

> >>> are below the control ranges relative to prior controls. The

> > activity

> >>> of the malonyl-CoA senative OPT (CPT-l) is In the control range

> >>> relative to prior controls. The activity of citrate synthase, a

> >>> mitochondrial I marker enzyme, is in the control range of our

> > prior

> >>> controls, The content of non-collagen protein (NCP) is in the

> > control

> >>> I range.

> >>>

> >>> These data indicate normal CPT-I, ******but suggest that there

> > is a

> >>> partial defect in CPT-lI in this skeletal muscle specimen.*****

> > This

> >>> is consistent with the heterozygous state.

> >>>

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

> >>>

> >>> What does this mean? What do they mean by, " This is consistent

> > with

> >>> the heterozygous state. " HELP!!!!!!!

> >>>

> >>> I've put in a call to Dr. Shields, but I won't hear from him

for

> > a

> >>> while, I'm sure. Your help is GREATLY apprectiated!

> >>>

> >>> Thanks,

> >>>

> >>> Mike

> >>>

> >>>

> >>>

> >>>

> >>>

> >>>

> >>>

> >>>

[Guest guest]

Mike

The CPT II diagnosis was wrong because of the lab that did it. My current

diagnosis is mito with a complex I & III defect and functional II defect

(low because I is absent). The CPT II is now gone out the window. I did not

respond to the treatment for it, nor did the fresh biopsies find it at all.

I would feel comfortable with a fresh biopsy done at CCF.

laurie

>

> Reply-To:

> Date: Sat, 12 Jul 2003 18:12:05 -0000

> To:

> Subject: Re: My " inconclusive " results

>

> Lauretta,

>

> Forgive me, but I'm still confused. What was your diagnosis changed

> to? Is the MCT II DX now gone? My biopsy was done at the Clevleand

> Clinic--fresh as can be, so their work is pretty good I hear ;-)

>

> Thanks,

>

> Mike

>

>

>>>> Mike

>>>>

>>>> I once had the diagnosis of a CPT II defect. Barbara has this

> and

>>> would be

>>>> much better at explaining it.

>>>>

>>>> The heterozygote state means that the defect is found in some

>>> cells and not

>>>> in others. This is what they mean by a partial deficiency.

>>> Homozygote is

>>>> when all cells are affected the same. Most metabolic conditions

>>> are thought

>>>> to be heterozygote as far as I know.

>>>>

>>>> laurie

>>>>

>>>>> From: " lord_mike_the_great " <lord_mike_the_great@y...>

>>>>> Reply-To:

>>>>> Date: Fri, 11 Jul 2003 20:25:21 -0000

>>>>> To:

>>>>> Subject: My " inconclusive " results

>>>>>

>>>>> Got the text from my muscle biopsy labs. Apparently, they are

>>> doing

>>>>> some more testing. I'll clip out the raw data, and give the

>>>>> interpretation. Can anyone tell me what this means for me?

> I'm

>>> only

>>>>> showing the abnormal labs:

>>>>>

>>>>> Interpretation:

>>>>> The yield of mitochortdrial protein from the skeletal muscle

>>> biopsy

>>>>> specimen is normal relative to prior controls, The

> ADP~stimulated

>>>>> (State 3) rates of subtrate oxidation were evaluated using

>>> various

>>>>> substrates that utilize dilferent dehydrogenases and provide

>>> reducing

>>>>> equivaiants that enter the mitoohondriai electron transport

>>> chain at

>>>>> different locations. Those rates are within the control range

>>> for the

>>>>> Substrates tested, ***** except for palmitoyl-L-camitine +

>>> maleate

>>>>> and octanoyl-CoA + carnitine + malate which are 2 SD's below

> the

>>>>> control mean.***** The A0P-stimulated rates (state 3) for the

>>> other

>>>>> fatty acid substrates tested: octanoyl-L-carnitine + maleate

> end

>>>>> palmitoyl-CoA + carnitine + maleate are within the control

>>> range, but

>>>>> these rates are at the low end of the control range. The

>>> respiratory

>>>>> control ratio (RCR= = State 3/State 4; Slate 4 is the ADP-

> limited

>>>>> rate) reflects the integrity of the mitochondria and the

>>> coupling of

>>>>> oxidative phosphorylalion. These are normal for all substrates.

>>> The

>>>>> ADP/O ratio (ADP added/oxygen consumed) indicates the

> efficiency

>>> of

>>>>> oxidative phosphorylation. These are normal. Maximum rates of

>>>>> substrate oxidation were measured in the presence of high

>>>>> concentrations of ADP (2 mM). These rates are also normal,

>>>>> *****except for palmitoyl-L-carnitine + maleate which 132 SD's

>>> bebw

>>>>> the control mean.******

>>>>>

>>>>> In conclusion, these results do not indicate any functional

>>>>> abnormality of the five enzyme complexes of mitochondrial

>>> oxidative

>>>>> phosphorylation. ******* However, the modest decrease in

>>> Oxidation of

>>>>> palmitoyl-L-carnitine may reflect a partial defect in carnitine

>>>>> palmitoyltransferase-II.******** Since acetyl-L-carnitinte

>>> oxidation

>>>>> is normal the translocase for acyl groups into the mitochondria

>>>>> appears intact. I would suggest analysis of cartitine and

>>>>> acylcarnitines, especisly long-chain acylcarnitlnes and the

>>> activity

>>>>> of the carnitinepalmitoyltransferases in the skeletal muscle

>>> biopsy.

>>>>>

>>>>> NEXT LAB IS THE ONE THEY RECOMMENDED ABOVE:

>>>>>

>>>>> Interpretation:

>>>>> The total carnitine palmitoyltransferase (OPT) activities

>>> measured

>>>>> both in the forward direction and in the backward or reverse

>>> reaction

>>>>> are below the control ranges relative to prior controls. The

>>> activity

>>>>> of the malonyl-CoA senative OPT (CPT-l) is In the control range

>>>>> relative to prior controls. The activity of citrate synthase, a

>>>>> mitochondrial I marker enzyme, is in the control range of our

>>> prior

>>>>> controls, The content of non-collagen protein (NCP) is in the

>>> control

>>>>> I range.

>>>>>

>>>>> These data indicate normal CPT-I, ******but suggest that there

>>> is a

>>>>> partial defect in CPT-lI in this skeletal muscle specimen.*****

>>> This

>>>>> is consistent with the heterozygous state.

>>>>>

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

>>>>>

>>>>> What does this mean? What do they mean by, " This is consistent

>>> with

>>>>> the heterozygous state. " HELP!!!!!!!

>>>>>

>>>>> I've put in a call to Dr. Shields, but I won't hear from him

> for

>>> a

>>>>> while, I'm sure. Your help is GREATLY apprectiated!

>>>>>

>>>>> Thanks,

>>>>>

>>>>> Mike

>>>>>

>>>>>

>>>>>

>>>>>

>>>>>

>>>>>

>>>>>

>>>>>