RE: Acylcarnitine profile/FOD

February 17, 2005

Malisa

Acylcarnitine's major function is transporting fatty acids into the

mitochondria. It's secondary function is to help rid the body of free

radicals.

Some of the symptoms of a total lack of carnitine are nausea, vomiting,

muscle weekness and others that I can't remember.

My acylcarnitine has never been checked during fasting, but is lowwhite not

fasting.

Could it be that there are not enough fatty acids in your TPN to cover you

over those periods of fasting?

I'm glad you have found something that helps you prevent feeling this way.

laurie

> From: Malilibear@...

> Reply-To:

> Date: Wed, 16 Feb 2005 23:18:36 EST

> To:

> Subject: Acylcarnitine profile/FOD

>

> Hi all,

> Have any of you had acylcarnitine profiles done that were only abnormal

> during fasting? I have had two profiles done in the past month during 6 and

> 8

> hrs of fasting and both were abnormal. Then, the levels were repeated on my

> TPN

> (IV nutrition) and the profile came back normal. My mito doctor says that he

> thinks I have a secondary fatty acid oxidation issue that occurs during

> fasting. He increased the amount of time I am on my TPN to 20 hrs/day.

>

> When I am off of my TPN, I start feeling really sick if I am off for more

> than several hours. Sometimes my blood sugar is low, but sometimes it's okay

> and I just feel sick all over. This has been happening more over the past

> year

> and often correlates when I am not feeling well in general. I used to be able

> to be off of TPN for 12 hrs without feeling badly. I can't describe how I

> feel when fasting, but I feel awful enough that I would go to the ER if I

> didn't have my TPN to hook up. Usually within 2-3 hrs of hooking up my TPN, I

> feel

> fine again. I am wondering if feeling so awful could correlate with the

> abnormal acylcarnitine profiles. Does anyone know if fatty acid oxidation

> issues

> can make you feel sick with only 4-6 hrs of fasting?

> Thanks.

> Malisa

>

February 17, 2005

In a message dated 2/17/2005 11:57:24 AM Eastern Standard Time,

whoewe2002@... writes:

I don't recall if I fasted for either of the times that the levels

were checked. Do you know of a written reference to the benefit of

comparing both fasting and nonfasting results?

Hi Maggie,

In the acylcarnitine profile, many of the medium chain, long chain, and very

long chain fatty acids came back high. I think I understood it correctly

that when they're high that means that I'm not using them appropriately and

this

is often what would be seen in fatty acid oxidation disorders. I don't have

a reference as to the benefit of comparing fasting to non fasting, but I

know that the mito docs do this for many mito tests b/c fasting is a stressor

in

a mito patient and you can often get abnormal results during fasting b/c of

this.

Thanks for your input. Have your docs explained to you why they think your

acylcarnitines have come back high?

Malisa

February 17, 2005

In a message dated 2/17/2005 8:02:02 AM Eastern Standard Time,

lfitzger@... writes:

Could it be that there are not enough fatty acids in your TPN to cover you

over those periods of fasting?

Hi Laurie,

Thanks for your insights. The acylcarnitines were high when fasting and

normal when on the TPN, so I don't think it has to do with the fatty acids in

the

TPN. However, I am essential fatty acid deficient in some of the fatty acids

that aren't in the TPN so you have a good point. I think the fatty acids I

am deficient in are different chain lengths than what is tested in the

acylcarnitine profile.

Malisa

February 17, 2005

Malisa,

When you mentioned your abnormal actylcarnitines, I wasn't sure if

yours were abnormally high or abnormally low. Mine are high. But

carnitine is low.

I don't recall if I fasted for either of the times that the levels

were checked. Do you know of a written reference to the benefit of

comparing both fasting and nonfasting results?

Maggie

> Malisa

>

> Acylcarnitine's major function is transporting fatty acids into the

> mitochondria. It's secondary function is to help rid the body of

free

> radicals.

>

> Some of the symptoms of a total lack of carnitine are nausea,

vomiting,

> muscle weekness and others that I can't remember.

>

> My acylcarnitine has never been checked during fasting, but is

lowwhite not

> fasting.

>

> Could it be that there are not enough fatty acids in your TPN to

cover you

> over those periods of fasting?

>

> I'm glad you have found something that helps you prevent feeling

this way.

>

> laurie

>

> > From: Malilibear@a...

> > Reply-To:

> > Date: Wed, 16 Feb 2005 23:18:36 EST

> > To:

> > Subject: Acylcarnitine profile/FOD

> >

> > Hi all,

> > Have any of you had acylcarnitine profiles done that were only

abnormal

> > during fasting? I have had two profiles done in the past month

during 6 and

> > 8

> > hrs of fasting and both were abnormal. Then, the levels were

repeated on my

> > TPN

> > (IV nutrition) and the profile came back normal. My mito doctor

says that he

> > thinks I have a secondary fatty acid oxidation issue that

occurs during

> > fasting. He increased the amount of time I am on my TPN to 20

hrs/day.

> >

> > When I am off of my TPN, I start feeling really sick if I am off

for more

> > than several hours. Sometimes my blood sugar is low, but

sometimes it's okay

> > and I just feel sick all over. This has been happening more over

the past

> > year

> > and often correlates when I am not feeling well in general. I

used to be able

> > to be off of TPN for 12 hrs without feeling badly. I can't

describe how I

> > feel when fasting, but I feel awful enough that I would go to

the ER if I

> > didn't have my TPN to hook up. Usually within 2-3 hrs of

hooking up my TPN, I

> > feel

> > fine again. I am wondering if feeling so awful could correlate

with the

> > abnormal acylcarnitine profiles. Does anyone know if fatty acid

oxidation

> > issues

> > can make you feel sick with only 4-6 hrs of fasting?

> > Thanks.

> > Malisa

> >

February 17, 2005

In a message dated 2/17/2005 6:54:22 PM Eastern Standard Time,

whoewe2002@... writes:

From what I've read - MADD effects all the chains; short, medium,

long and very long. I'm still confused about how they determine the

level of dysfunction in the chains. Is that determined by the

acylcarnitine profile?

HI Maggie,

I'm not sure how they determine the level of dysfunction. I think the

acylcarnitine profile can help point them in the right direction of where the

dysfunction could be, but I am not sure. For me, the acylcarnitine profile

doesn't

list a specific disorder, it just says that a bunch of them are abnormally

high. Maybe someone else knows the answer to this.

My muscle bx was normal, but so many of my mito labs are abnormal that my

mito doc still thinks that the mito disorder is primary and the fatty acid

oxidation disorder is secondary and shows up during stress or fasting.

Thanks for your help.

Malisa

February 17, 2005

In a message dated 2/17/2005 6:54:22 PM Eastern Standard Time,

whoewe2002@... writes:

From what I've read - MADD effects all the chains; short, medium,

long and very long. I'm still confused about how they determine the

level of dysfunction in the chains. Is that determined by the

acylcarnitine profile?

HI Maggie,

I'm not sure how they determine the level of dysfunction. I think the

acylcarnitine profile can help point them in the right direction of where the

dysfunction could be, but I am not sure. For me, the acylcarnitine profile

doesn't

list a specific disorder, it just says that a bunch of them are abnormally

high. Maybe someone else knows the answer to this.

My muscle bx was normal, but so many of my mito labs are abnormal that my

mito doc still thinks that the mito disorder is primary and the fatty acid

oxidation disorder is secondary and shows up during stress or fasting.

Thanks for your help.

Malisa

February 17, 2005

In a message dated 2/17/2005 7:17:25 PM Eastern Standard Time,

lfitzger@... writes:

I looked up my acylcanitine report. I can only find one at the moment. My

notebook is a mess. It shows the short-chain acylcarnitine as the difference

between the total and free carnitine. I have no idea what this means.

Thanks, Laurie! I appreciate you looking that up for me. On one of the

interpretations it says that carnitine supplementation can elevate the short

chain

fatty acids. Some of my short chains are elevated and we think that's why,

but the medium, long chain and very long chains are elevated too.

One of my mito doctors e-mailed me back today and explained things a little

better for me. I'll share his explanation b/c I think he used a great

analogy. I asked him what the elevated acylcarnitines meant and if the

abnormalities could make me not feel well when fasting. This was his response:

" I'd look at the acylcarnitine profiles as looking at metabolic " symptoms " ,

kind of like a fever in an infection. The underlying infection is the

trouble, and perhaps the fever will make you feel worse, but it is not really

the

cause of the problem. Your underlying metabolism problem may be reflected in

the acylcarntine profile results, which will become abnormal during periods

of relative catabolism. So, I think there is a connection - the abnormalities

are reflecting your tolerance for fasting - and perhaps it is true that in

general symptoms of not feeling good shouldn't occur so soon in adults, it

seems that your metabolism is more sensitive and your body is telling you that

you perhaps need more constant nutrition. "

Malisa

February 17, 2005

Melisa

I believe tha carnitine works with the long chain fatty acids. I'll look up

my acylcarnitine results when I return from the store.

laurie

> From: Malilibear@...

> Reply-To:

> Date: Thu, 17 Feb 2005 14:06:47 EST

> To:

> Subject: Re: Acylcarnitine profile/FOD

>

> In a message dated 2/17/2005 8:02:02 AM Eastern Standard Time,

> lfitzger@... writes:

>

> Could it be that there are not enough fatty acids in your TPN to cover you

> over those periods of fasting?

>

> Hi Laurie,

> Thanks for your insights. The acylcarnitines were high when fasting and

> normal when on the TPN, so I don't think it has to do with the fatty acids in

> the

> TPN. However, I am essential fatty acid deficient in some of the fatty acids

> that aren't in the TPN so you have a good point. I think the fatty acids I

> am deficient in are different chain lengths than what is tested in the

> acylcarnitine profile.

> Malisa

>

February 17, 2005

> Thanks for your input. Have your docs explained to you why they

think your

> acylcarnitines have come back high?

> Malisa

>

Malisa,

Possible fatty acid oxidation (MADD - was the interpretation on the

lab results). It was suggested to me that the fatty acid disorder

was probably secondary... but my muscle biopsy didn't reveal a clue

(other than a muscle CoQ10 deficiency).

From what I've read - MADD effects all the chains; short, medium,

long and very long. I'm still confused about how they determine the

level of dysfunction in the chains. Is that determined by the

acylcarnitine profile?

Maggie

February 17, 2005

> Thanks for your input. Have your docs explained to you why they

think your

> acylcarnitines have come back high?

> Malisa

>

Malisa,

Possible fatty acid oxidation (MADD - was the interpretation on the

lab results). It was suggested to me that the fatty acid disorder

was probably secondary... but my muscle biopsy didn't reveal a clue

(other than a muscle CoQ10 deficiency).

From what I've read - MADD effects all the chains; short, medium,

long and very long. I'm still confused about how they determine the

level of dysfunction in the chains. Is that determined by the

acylcarnitine profile?

Maggie

February 17, 2005

In a message dated 2/17/2005 10:19:53 PM Eastern Standard Time,

rakshasis@... writes:

_http://www.formydiet.com/Information/disorder.aspx?a=9_

(http://www.formydiet.com/Information/disorder.aspx?a=9)

Thanks, RH!

Malisa

February 17, 2005

In a message dated 2/17/2005 8:05:00 PM Eastern Standard Time,

wheatchild@... writes:

Malissa, I just saw this, and yes, your doctor's explanation was my

understanding from Dr. V as to the significance of the acylcarnitine profile

and what it means. For once, the experts agree.

Thanks, Barbara!

Malisa

February 17, 2005

Malisa

I looked up my acylcanitine report. I can only find one at the moment. My

notebook is a mess. It shows the short-chain acylcarnitine as the difference

between the total and free carnitine. I have no idea what this means.

laurie

>

> Reply-To:

> Date: Thu, 17 Feb 2005 23:48:35 -0000

> To:

> Subject: Re: Acylcarnitine profile/FOD

>

>> Thanks for your input. Have your docs explained to you why they

> think your

>> acylcarnitines have come back high?

>> Malisa

>>

>

> Malisa,

>

> Possible fatty acid oxidation (MADD - was the interpretation on the

> lab results). It was suggested to me that the fatty acid disorder

> was probably secondary... but my muscle biopsy didn't reveal a clue

> (other than a muscle CoQ10 deficiency).

>> From what I've read - MADD effects all the chains; short, medium,

> long and very long. I'm still confused about how they determine the

> level of dysfunction in the chains. Is that determined by the

> acylcarnitine profile?

>

> Maggie

>

> Medical advice, information, opinions, data and statements contained herein

> are not necessarily those of the list moderators. The author of this e mail is

> entirely responsible for its content. List members are reminded of their

> responsibility to evaluate the content of the postings and consult with their

> physicians regarding changes in their own treatment.

>

> Personal attacks are not permitted on the list and anyone who sends one is

> automatically moderated or removed depending on the severity of the attack.

>

February 17, 2005

Malisa

I looked up my acylcanitine report. I can only find one at the moment. My

notebook is a mess. It shows the short-chain acylcarnitine as the difference

between the total and free carnitine. I have no idea what this means.

laurie

>

> Reply-To:

> Date: Thu, 17 Feb 2005 23:48:35 -0000

> To:

> Subject: Re: Acylcarnitine profile/FOD

>

>> Thanks for your input. Have your docs explained to you why they

> think your

>> acylcarnitines have come back high?

>> Malisa

>>

>

> Malisa,

>

> Possible fatty acid oxidation (MADD - was the interpretation on the

> lab results). It was suggested to me that the fatty acid disorder

> was probably secondary... but my muscle biopsy didn't reveal a clue

> (other than a muscle CoQ10 deficiency).

>> From what I've read - MADD effects all the chains; short, medium,

> long and very long. I'm still confused about how they determine the

> level of dysfunction in the chains. Is that determined by the

> acylcarnitine profile?

>

> Maggie

>

> Medical advice, information, opinions, data and statements contained herein

> are not necessarily those of the list moderators. The author of this e mail is

> entirely responsible for its content. List members are reminded of their

> responsibility to evaluate the content of the postings and consult with their

> physicians regarding changes in their own treatment.

>

> Personal attacks are not permitted on the list and anyone who sends one is

> automatically moderated or removed depending on the severity of the attack.

>

February 17, 2005

I think Malissa is right. The acylcarnitine profile is not necessarily

diagnostic of a particular disorder, but can point in certain directions.

The problem can be pinpointed further by looking at FAO in fibroblasts,

either measuring the activity of specific enzymes of various chain lengths

or by setting up in vitro models with the patient's fibroblasts. By adding

various " test " substances to these working cell models, they can determine

which chain lengths are functioning and to what degree. For example, throw

in a medium-chain marker and see how much gets oxidized and actually comes

out the other end, etc. This was done with my fibroblasts by the heat shock

team in Denmark. They looked at total beta oxidation function in all chain

lengths and found them all greatly impaired. I know two other patients have

been told they have impairment in " medium chain FAO " based on similar

fibroblast tests and that is as specific as their diagnosis has gotten.

These patients were diagnosed at Mayo Clinic several years back when Gerard

Vockley was still there.

B

_____

From: Malilibear@...

Sent: Thursday, February 17, 2005 6:32 PM

To:

Subject: Re: Acylcarnitine profile/FOD

In a message dated 2/17/2005 6:54:22 PM Eastern Standard Time,

whoewe2002@... writes:

>From what I've read - MADD effects all the chains; short, medium,

long and very long. I'm still confused about how they determine the

level of dysfunction in the chains. Is that determined by the

acylcarnitine profile?

HI Maggie,

I'm not sure how they determine the level of dysfunction. I think the

acylcarnitine profile can help point them in the right direction of where

the

dysfunction could be, but I am not sure. For me, the acylcarnitine profile

doesn't

list a specific disorder, it just says that a bunch of them are abnormally

high. Maybe someone else knows the answer to this.

My muscle bx was normal, but so many of my mito labs are abnormal that my

mito doc still thinks that the mito disorder is primary and the fatty acid

oxidation disorder is secondary and shows up during stress or fasting.

Thanks for your help.

Malisa

February 17, 2005