Re: CARNITINE DEFICIENCY/response from Dr.

[Guest guest]

Most of us heard about someone HS age who was playing football or

something and had sudden death on the field. It's typically then or even more

down the road.

I believe the point is that it's a life long supplementation with

prescription carnitine –stop and the risk is back. How would you or

your son know this? And if for example he tested normal you wouldn't

have given it a second thought.

Over the years most of us didn't see Dan people (not all are medical

doctors or even PhDs) or use special diets or anything other than

fish oils or vitamin E and therapies and we had great success. Once

kids were talking and doing well many of the parents stopped the fish

oils.

This is why I believe it's best to work through pediatric medical

doctors. My child's pediatrician ran all the tests for my son Tanner

and it was covered by our insurance.

Of course ultimately it's up to each one of us what to do. The

advice from the medical professionals is to not supplement with

carnitine prior to supplementation so you know and know never to stop

taking the supplements. Did you ever take your son to see a

geneticist that specializes in metabolic disorders? That's the

recommendation once one tests low in carnitine.

=====

[Guest guest]

The truly frightening thing is that my child could have died..... though I agree

testing is important, in my childs case (hindsight mind you), I am glad that I

didnt wait.

I know that you need to find out base line levels, but if the child is dead, the

point is moot.

Janice

[sPAM][ ] CARNITINE DEFICIENCY/response from Dr.

Janice here's response about this from MD:

" If tested low on carnitine supplement, the child's level would have

been even lower prior to supplementation. Carnitine is benign, so to

supplement without a deficiency won't hurt, but probably won't do

much. However if truly carnitine deficient...you would want to know

and get it worked up. However I think someday, SAAM will be an

additional known medical condition associated with a carnitine

deficiency. The kids with carnitine deficiency should also have

celiac panel done and stool for fecal fat...as a malabsorption

syndrome can cause carnitine deficiency.

Regardless of the cause of the deficiency...it will in itself cause

problems. ph's carnitine level was 9 before supplements. Levels

this low are associated with sudden death!!!! Also with dilated

cardiomyopathy...another life threatening condition that is avoidable

with carnitine supplements. ph continued to have low plasma

levels on supplements...and he is now on 100 mg/kg day...what it took

to get his plasma levels into normal range. Usually one starts at

25mg/kg/ day. It it unusual to need such high doses. This may be more

typical for this syndrome. But supplements will IMMEDIATELY impact

your measured plasma level. It will not take months. But if carnitine

is not absorbed or there is rapid turnove, higher doses will be

needed to get the level to normal.

This is an important finding of our last year...apraxia and carnitine

deficiency. More evidence that this is a medical syndrome and not a

developmental issue. All kids with apraxia should be screened for

carnitine.

On spring break...driving to Palm springs to see my dad, then Disney

for 3 days. Fun. No computer. But started writing the apraxia

manuscript. We will get this out there in the literature within the

next year! "

Sent via BlackBerry by AT & T

=====

[Guest guest]

Is it always a lifelong deal, even in cases where the problem was

metabolic and is being addressed? Or is this just part of addressing

it?

>

> Most of us heard about someone HS age who was playing football or

> something and had sudden death on the field. It's typically then

or even more down the road.

>

> I believe the point is that it's a life long supplementation with

> prescription carnitine –stop and the risk is back. How would you or

> your son know this? And if for example he tested normal you

wouldn't

> have given it a second thought.

>

> Over the years most of us didn't see Dan people (not all are medical

> doctors or even PhDs) or use special diets or anything other than

> fish oils or vitamin E and therapies and we had great success. Once

> kids were talking and doing well many of the parents stopped the

fish

> oils.

>

> This is why I believe it's best to work through pediatric medical

> doctors. My child's pediatrician ran all the tests for my son

Tanner

> and it was covered by our insurance.

>

> Of course ultimately it's up to each one of us what to do. The

> advice from the medical professionals is to not supplement with

> carnitine prior to supplementation so you know and know never to

stop

> taking the supplements. Did you ever take your son to see a

> geneticist that specializes in metabolic disorders? That's the

> recommendation once one tests low in carnitine.

>

> =====

>

[Guest guest]

Liz this is a new road we are all on -and one we only learned of

recently here. I post this warning because it appears some out there

are just telling people to supplement to see if they see a surge -and

that's not good advice for the reasons stated.

This is the info out there- whether it's true for all our children I

don't know -but who would want to take that chance?

" Lifelong treatment with L-carnitine and avoidance of fasting are

required. Hypoglycemia or sudden deaths from arrhythmias (even

without cardiomyopathy) have been reported in patients who stop their

carnitine supplementation against medical advice. "

http://www.emedicine.com/PED/topic321.htm

Many times there are no signs of a carnitine deficiency until it's

too late. Many of us (like me) had our child who's doing well tested

just to make sure. It's a simple blood draw that can be ordered by

your child's pediatrician. While many of us can take our children on

and off fish oils or vitamin E -and the only " bad " thing would be a

regression...which resolves when you put them back on -this is

the 'only' supplement that if you really need it -you need it whether

you notice any change or not. Once our children go out on their own

they would need to know -and from what I've read they can lead normal

lives.

Not all here will have children that test low in carnitine -but it's

worth testing for since it does appear that the numbers are way

higher than the stats of only 1 in 40,000 testing low.

This again is not to scare anyone but carnitine deficiency is

according to the following article typically around 1 in 40,000 and

out of those few that took their child to be tested from this group of

less then 10,000 the numbers are coming back way higher than that.

If your child tests low in carnitine (prior to supplementation -it's

difficult to know once you do) he or she will need to be on

supplements and monitered for life.

" Lifelong treatment with L-carnitine and avoidance of fasting are

required. Hypoglycemia or sudden deaths from arrhythmias (even

without cardiomyopathy) have been reported in patients who stop their

carnitine supplementation against medical advice. "

And how would anyone know that their child needed to be on a

supplement for life for serious reasons unless they were tested?

I just posted an archive from -but here's some info from

emedicine:

Sudden death: Unfortunately, the first clinical manifestation in

asymptomatic individuals with primary carnitine deficiency may be

sudden death. This also may occur in patients with secondary

carnitine deficiency as a consequence of ventricular tachycardia or

fibrillation.

Heart failure: Patients with primary carnitine deficiency develop a

progressive cardiomyopathy that usually presents at a later age. The

cardiac function does not respond to inotropes or diuretics. If the

condition is not diagnosed correctly and no carnitine is

supplemented, progressive heart failure eventually leads to death.

Heart failure caused by dilated cardiomyopathy may be the presenting

syndrome in patients with secondary carnitine deficiency caused by

defects in beta-oxidation, such as long-chain 3-hydroxyacyl-CoA

dehydrogenase (LCHAD) and very long-chain acyl-CoA dehydrogenase

(VLCAD) deficiency.

Prognosis

Primary carnitine deficiency

Patients with primary carnitine deficiency have excellent prognosis

with oral carnitine supplementation.

If the disorder is unrecognized, mortality may occur from cardiac

failure, arrhythmias, or sudden death.

Lifelong treatment with L-carnitine and avoidance of fasting are

required. Hypoglycemia or sudden deaths from arrhythmias (even

without cardiomyopathy) have been reported in patients who stop their

carnitine supplementation against medical advice.

Secondary carnitine deficiency

Prognosis of secondary carnitine deficiency depends on the nature of

the disorder.

Translocase deficiency and the infantile form of CPT-II deficiency

have very poor prognosis regardless of treatment.

In general, disorders of fatty acid oxidation require lifelong

prevention of fasting and diet modification.

Other metabolic disorders that cause secondary carnitine deficiency,

such as organic acidemias, require lifelong diet modification and

nutritional supplements.

http://www.emedicine.com/PED/topic321.htm

and info from Tina -and this is the route I would have taken if

Tanner tested low- taking him to a geneticist that specialized in

mitochondrial and metabolic diseases.

Mitochondrial Disease

What are mitochondria?

A mitochondrion (singular of mitochondria) is part of every cell in

the body that contains genetic material. Mitochondria are responsible

for processing oxygen and converting substances from the foods we eat

into energy for essential cell functions. Mitochondria produce energy

in the form of adenosine triphosphate (ATP), which is then

transported to the cytoplasm of a cell for use in numerous cell

functions.

What are mitochondrial and metabolic diseases?

Mitochondrial medicine is a new and rapidly developing medical

subspecialty. Many specialists are involved in researching

mitochondrial diseases, including doctors specializing in metabolic

diseases, cell biologists, molecular geneticists, neurologists,

biochemists, pathologists, immunologists, and embryologists. Much of

what we know about these diseases has been discovered since 1940. In

1959, the first patient was diagnosed with a mitochondrial disorder.

In 1963, researchers discovered that mitochondria have their own DNA

or " blueprint " (mtDNA), which is different than the nuclear DNA

(nDNA) found in the cells' nucleus.

Mitochondrial and metabolic medical conditions are now referred to as

mitochondrial cytopathies. Mitochondrial cytopathies actually include

more than 40 different identified diseases that have different

genetic features. The common factor among these diseases is that the

mitochondria are unable to completely burn food and oxygen in order

to generate energy.

The process of converting food and oxygen (fuel) into energy requires

hundreds of chemical reactions, and each chemical reaction must run

almost perfectly in order to have a continuous supply of energy. When

one or more components of these chemical reactions does not run

perfectly, there is an energy crisis, and the cells cannot function

normally. As a result, the incompletely burned food might accumulate

as poison inside the body.

This poison can stop other chemical reactions that are important for

the cells to survive, making the energy crisis even worse. In

addition, these poisons can act as free radicals (reactive substances

that readily form harmful compounds with other molecules) that can

damage the mitochondria over time, causing damage that cannot be

reversed. Unlike nuclear DNA, mitochondrial DNA has very limited

repair abilities and almost no protective capacity to shield the

mitochondria from free radical damage.

What are the symptoms of mitochondrial diseases?

The types of mitochondrial diseases are categorized according to the

organ systems affected and symptoms present. Mitochondrial diseases

might affect the cells of the brain, nerves (including the nerves to

the stomach and intestines), muscles, kidneys, heart, liver, eyes,

ears, or pancreas. In some patients, only one organ is affected,

while in other patients all the organs are involved. Depending on how

severe the mitochondrial disorder is, the illness can range in

severity from mild to fatal.

Depending on which cells of the body are affected, symptoms might

include:

Poor growth

Loss of muscle coordination, muscle weakness

Visual and/or hearing problems

Developmental delays, learning disabilities

Mental retardation

Heart, liver, or kidney disease

Gastrointestinal disorders, severe constipation

Respiratory disorders

Diabetes

Increased risk of infection

Neurological problems, seizures

Thyroid dysfunction

Dementia (mental disorder characterized by confusion, disorientation,

and memory loss)

How common are mitochondrial diseases?

About one in 4,000 children in the United States will develop

mitochondrial disease by the age of 10 years. One thousand to 4,000

children per year in the United Sates are born with a type of

mitochondrial disease.

In adults, many diseases of aging have been found to have defects of

mitochondrial function. These include, but are not limited to, type 2

diabetes, Parkinson's disease, atherosclerotic heart disease, stroke,

Alzheimer's disease, and cancer. In addition, many medicines can

injure the mitochondria.

What causes mitochondrial disease?

For many patients, mitochondrial disease is an inherited condition

that runs in families (genetic). An uncertain percentage of patients

acquire symptoms due to other factors, including mitochondrial toxins.

It is important to determine which type of mitochondrial disease

inheritance is present, in order to predict the risk of recurrence

for future children.

The types of mitochondrial disease inheritance include:

nDNA (DNA contained in the nucleus of the cell) inheritance. Also

called autosomal inheritance.

-- If this gene trait is recessive (one gene from each parent), often

no other family members appear to be affected. There is a 25 percent

chance of the trait occurring in other siblings.

-- If this gene trait is dominant (a gene from either parent), the

disease often occurs in other family members. There is a 50 percent

chance of the trait occurring in other siblings.

mtDNA (DNA contained in the mitochondria) inheritance.

-- There is a 100 percent chance of the trait occurring in other

siblings, since all mitochondria are inherited from the mother,

although symptoms might be either more or less severe.

Combination of mtDNA and nDNA defects:

-- Relationship between nDNA and mtDNA and their correlation in

mitochondrial formation is unknown

Random occurrences

Diseases specifically from deletions of large parts of the

mitochondrial DNA molecule are usually sporadic without affecting

other family member

-- Medicines or other toxic substances can trigger mitochondrial

disease

How are mitochondrial diseases diagnosed?

Diagnosis of mitochondrial disease can be invasive, expensive, time-

consuming, and labor-intensive. Therefore, evaluation is not taken

lightly. Doctors experienced in diagnosing and treating these

diseases will take either a step-wise approach to diagnosis or, in

some centers, the evaluation takes place over a few days. The

evaluation includes a combination of clinical observations and

laboratory tests.

Under ideal circumstances, the evaluation will produce an answer.

However, even after a complete evaluation, the doctor might not be

able to confirm a specific diagnosis or put a name to the disorder.

In many cases, however, the physician will be able to identify which

patients do and don't have metabolic diseases.

Mitochondrial disease is diagnosed by:

Evaluating the patient's family history

Performing a complete physical examination

Performing a neurological examination

Performing a metabolic examination that includes blood, urine, and

optional cerebral spinal fluid tests

Performing other tests, depending on the patient's specific condition

and needs. These tests might include:

-- Magnetic resonance imaging (MRI) or scan (MRS) if neurological

symptoms are present

-- Retinal exam or electroretinogram if vision symptoms are present

-- Electrocardiogram (EKG) or echocardiogram if heart disease

symptoms are present

-- Audiogram or BAEP if hearing symptoms are present

-- Blood test to detect thyroid dysfunction if thyroid problems are

present

-- Blood test to perform genetic DNA testing

More invasive tests, such as a skin or muscle biopsy, might be

performed as needed and recommended by your doctor.

How are mitochondrial diseases treated?

There are no cures for mitochondrial diseases, but treatment can help

reduce symptoms, or delay or prevent the progression of the disease.

Treatment is individualized for each patient, as doctors specializing

in metabolic diseases have found that every child and adult

is " biochemically different. " That means that no two people will

respond to a particular treatment in a specific way, even if they

have the same disease.

Certain vitamin and enzyme therapies, along with occupational and

physical therapy, might be helpful for some patients.

Vitamins and supplements prescribed might include:

- Coenzyme Q10

- B complex vitamins: thiamine (B1), riboflavin (B2), niacin (B3),

B6, folate, B12, biotin, pantothenic acid

- Vitamin E, lipoic acid, selinium, and other antioxidants

- L-carnitine (Carnitor®)

- Intercurrent illness supplement: vitamin C, biotin

Diet therapy, as prescribed by your doctor along with a registered

dietitian, might be recommended.

Antioxidant treatments as protective substances are currently being

investigated as another potential treatment method.

Important: Specific treatments should always be guided by a metabolic

specialist. Patients should not take any of these supplements or try

any of the treatments unless prescribed by a doctor. Taking

inappropriate supplements or treatments might lead to delays or

failure in establishing an accurate diagnosis.

What is the prognosis or outlook?

Once a patient is diagnosed with a specific mitochondrial disease,

the patient's medical problems have already been identified or can be

identified with proper testing so treatment can be initiated to

relieve symptoms and delay the progression of the disease.

There is no way to predict the course of mitochondrial diseases. They

might progress quickly or slowly, even over decades. The disease

might also appear stable for years.

For parents considering having other children, genetic counseling is

available. Although complex, prenatal testing is only available for a

few types of mitochondrial disorders. Please discuss your concerns

with your doctor.

©Copyright 1995-2007 Cleveland Clinic. All rights reserved.

Can't find the health information you're looking for? Ask a Health

Educator, Live!

Click here to go to the Medical Genetics Program Web site.

=====

[Guest guest]

please do not just supplement with carnitine -you may not

notice a difference anyway -and as I said to Janice how would you -

and then your child as he grows up to a teen and then and adult know

that he needed to be on prescription carnitine for life? It's not

like fish oil or vitamin E that you can try and stop -and it doesn't

matter if you try it before or after blood draws or if you stop

taking it. This is new but very serious info.

Your pediatrician needs to see the reason for the testing. Did you

take with you the information from Dr. ? I would

advocate with your doctor and put this all in writing as to why you

insist he orders the blood draw for your son or that you will hold

him responsible. Or can't you just fire him and find another

pediatrician? Most pediatricians will respect Dr. as

she is respected as both a pediatrician and a researcher. I'll help

you if you need it -there's no way your child's pediatrician won't

order this test for your child if you put this all in writing.

=====

[Guest guest]

Janice I'm not sure how it works in Canada -but I thought you didn't

have to pay for needed medical care. (that's what I get from

watching MM's Sicko!)

Also how would one know if it's primary or secondary?

=====

[Guest guest]

I appreciate this info. I asked about the lifelong thing because that

tone stuff that is obvious and rampant in my family. My kids medical

histories, both of them, show something genetic in them, and it

relates a lot to folks in my family who had heart stuff as kids but

are pretty well as adults. This is why I asked. I have to do that

cardio follow up per the geneticist so I may as well ask there. My

pediatrician will not order anything. He would not order copper and

zinc levels just to check my daughter's hair loss. Just the way it

is.

>

> Liz this is a new road we are all on -and one we only learned of

> recently here. I post this warning because it appears some out

there

> are just telling people to supplement to see if they see a surge -

and

> that's not good advice for the reasons stated.

>

> This is the info out there- whether it's true for all our children

I

> don't know -but who would want to take that chance?

>

> " Lifelong treatment with L-carnitine and avoidance of fasting are

> required. Hypoglycemia or sudden deaths from arrhythmias (even

> without cardiomyopathy) have been reported in patients who stop

their

> carnitine supplementation against medical advice. "

> http://www.emedicine.com/PED/topic321.htm

>

> Many times there are no signs of a carnitine deficiency until it's

> too late. Many of us (like me) had our child who's doing well

tested

> just to make sure. It's a simple blood draw that can be ordered by

> your child's pediatrician. While many of us can take our children

on

> and off fish oils or vitamin E -and the only " bad " thing would be a

> regression...which resolves when you put them back on -this is

> the 'only' supplement that if you really need it -you need it

whether

> you notice any change or not. Once our children go out on their

own

> they would need to know -and from what I've read they can lead

normal

> lives.

>

> Not all here will have children that test low in carnitine -but

it's

> worth testing for since it does appear that the numbers are way

> higher than the stats of only 1 in 40,000 testing low.

>

[Guest guest]

When I requested 's levels, our regular pediatrician thought I

was nuts, but he did agree to do it. His were normal, but our

developmental pediatrician suggested giving supplementation a try

anyway. We did, with no effect, so for now we have stopped and are

focusing on our home program to work on our remaining issues.

FYI -- Our developmental pediatrician never suggested blood tests

before supplementing. She was not too worried about him having a

primary carnitine deficiency, but, as previously noted by others,

that is probably based on the assumption that carnitine deficiency is

incredibly rare. If we see her again, I will bring 's new

information to her attention. (You know how docs love that!)

We continue to supplement Tyler because we are not yet ready to draw

lots of blood from his little body. When we are ready, I will stop

the carnitine in advance of testing so that we can get a picture of

his natural carnitine level. I do not plan to just stop the

supplement without a reason at this time. Sudden death is not a

desirable outcome!

For Tyler, we use Jarrow Formula L-Carnitine. It comes in 500mg

capsules. On the recommendation of his DAN doctor, I give him

2,000mg per day. Honestly, I can't say that I have noticed a direct

impact from the carnitine. Apparently, carnitine can also help the

body absorb other vitamins, especially B's, so it may be contributing

to his progress indirectly by helping him absorb the B's he takes

(Folinic Acid, P5P [b6], & mB12 shots).

There is another type of carnitine supplement that is more expensive

(acetyl carnitine?), and some children do better on that supplement.

That may also be the form prescribed for children with primary

carnitine deficiency, but you can buy it over the counter for sure.

Hope that helps!

in NJ

>

> I tried to get my son's carnitine levels checked, but my reg ped

refused. I'm in the land of HMOs......Kaiser. I'd like to look into

supplementing -- especially if it won't hurt him -- to se if things

improve. Can anyone share the specifics as to brands and doses?

>

> Oh, by the way, I had some allergy testing done on my son (outside

the insurance, of course), and he tested 100 % allergic to wheat and

all gluten products, as well as 100% egg allergy. It's great to have

this information.

>

[Guest guest]

I just wanted to say I am surprised that your doctor wouldn't order the

carnitine test. Did

he say why? My ped ordered it, and our insurance even paid for it (which was a

major

surprise as they seem to have some reason to refuse payment for everything --

for

instance, they would not pay to test for celiac).

>

>

> Hi ,

>

> I did bring in Dr ' information to my doctor, and he wouldn't even look

at it.

You're right, I need to just fire him. He still thinks that I've overracted to

everything, and

that my son is " normal " as he says. In fact, I had to go behind his back and get

a referral to

a dev. ped. that went on to diagnose my son with oromotor dyspraxia. It's

become

completely clear to me that this doc has to go. I guess I've held on to him

because he's

not forcing me to continue the vaccines.....since my son's reaction to the

chicken pox

vaccine. I'll ask around and find someone better.

>

> In fact, if anyone knows of a Kaiser doc (ped) in the Sacramento Ca area

that's

flexible/understanding, etc.....that you've had good experiences with, please

let me know.

>

> I also wanted to thank Colleen for the suggestion to see Dorfman. She's

helping

us with my son's GI issues, and I'm beginning to see changes.

>

>

>

>

> @...: kiddietalk@...: Sun, 30 Mar 2008 03:05:13

+0000Subject:

[ ] Re: CARNITINE DEFICIENCY/response from Dr.

>

>

>

>

> please do not just supplement with carnitine -you may not notice a

difference

anyway -and as I said to Janice how would you -and then your child as he grows

up to a

teen and then and adult know that he needed to be on prescription carnitine for

life? It's

not like fish oil or vitamin E that you can try and stop -and it doesn't matter

if you try it

before or after blood draws or if you stop taking it. This is new but very

serious info.Your

pediatrician needs to see the reason for the testing. Did you take with you the

information

from Dr. ? I would advocate with your doctor and put this all in

writing as to

why you insist he orders the blood draw for your son or that you will hold him

responsible. Or can't you just fire him and find another pediatrician? Most

pediatricians

will respect Dr. as she is respected as both a pediatrician and a

researcher.

I'll help you if you need it -there's no way your child's pediatrician won't

order this test for

your child if you put this all in writing. =====