Carnitine Deficiency

[mahre]

How can a carnitine deficiency not be a mitochondrial disorder?  What else can it me?

He had $1300.00 worth of blood work to rule out mitochondrial disorders at the local neurologists.  I do not know what was tested.  Negative according to the doctor except slightly elevated lactate levels I think?  When the blood work was done he was doing great.  I have read we should have waited until he was sick again or on the down of his very cyclic health system.  He has ups and downs.  My husband wants to know...
Is there any research or medical information that we can read about when it is best to do Christophers lab work so that we can get accurate results?

The doctors think his diet caused the carnitine deficiency.  I am not convinced.  We are vegetarian.  I know tons of vegetarian children.  

I had one more question I can not remember.

I am wondering what to do next.
My son (35 months and 25lbs) has a variety of challenges.
-Failure to Thrive
-Low tone
-Loss of speech at approx 20-22 months, went from saying about 10 simple words to silence for approx 4 months.
-Apraxia of Speech and Oral motor cavity, I (mom) think of his hands as well.
-Awkward movement, especially his hands/fingers
-Significant energy loss/tone regression? at around 30 months.  
-Low Carnitine - Carnitine Supplementation has done miracles for him!  
-? Hypoglycemia
-Abnormal EEG possible absence seizures
-10 minute partial seizure
-Restless sleep
-Soy intolerance/allergy
-High Fat Intake Intolerance
-Sensory Integration Disorder
-Too Social to be Autistic, but has autistic tendencies
-Cyclic Moods and Eating Habits
-Has 3 times went 5-7 days refusing to eat anything and only drink milk.
-Has times when he vomits frequently for no reason. GERD? Loud burps.
-Complains of Leg Pain and sometimes headaches
-Normal MRI
-Small x-chromosome duplication

[jjb419]

Hi there. I just sent you a note.
My daughter has similar issues and we are wondering about mito issues too.
Here are her health issues:

Stroke at birth
SP & CP seizures
Ehlers Danlos syndrome
NVLD (similar to aspergers ... also very social)
general tone issues NOT from the stroke
cyclic nausea & vomiting
dysautonomia (gi, temp, and sweating abnormalities)
Food intolerance as a baby (lots of allergic type eczema and other rashes)
Sensory integration disorder
more recently carnitine def (free & plasma low)
intense fatigue

I have a strong family hx of epilepsy and of course ehlers danlos syndrome with dysautonoma. One family member had severe impairments (total paralysis, blind & deaf) with epilepsy and died as a child. Several others just epielpsy and EDS. Some with chiari. Lots of inflammatory issues.

We are in the northeast and will be seeing an autonomic neuro next month, but I am also planning on taking my child to a mito specialist.

[Neuro Forum]

Thanks for using the forum. I am happy to address your questions, and my answer will be based on the information you provided here. Please make sure you recognize that this forum is for educational purposes only, and it does not substitute for a formal office visit with your doctor.

Your sons symptoms and history are complex and unfortunately out of the area of our expertise (adult neurology). I will limit my discussion to a brief carnitine deficiency.

Carnitine deficiency can be primary or secondary. Primary carnitine deficiency is caused by a defect in a specific protein in the body (in the kidney or muscle) leading to lack of proper transport of carnitine across cells. There are specific findings on urine testing that suggest this diagnosis, and there is a known genetic mutation that leads to this condition.

Secondary carnitine deficiency may occur due to specific disorders of the carnitine cycle or in defects in metabolic pathways related to fatty acids. There are several metabolic disorders that can present with carnitine deficiency including mitochondrial disorders, disorders of amino acid metabolism, disorders in the urea cycle, and other errors of inborn metabolism. Problems in the liver can also affect carnitine metabolism

Dietary deficiencies in carntine can also lead to carnitine deficiency. Certain vegetarian diets can lead to deficiency, but well-balanced vegetarian diets may not necessarily. Some medications, including the seizure medication valproic acid and some HIV medications also lead to carnitine deficiency, in which case oral supplementation with carnitine is necessary and helpful.

You are correct that in children with specific metabolic disorders, times of stress such as infection can lead to worsening of metabolic derangements, and blood tests that were otherwise normal can be abnormal when the child is ill. This is the case for specific metabolic disorders.

Extensive testing is sometimes required to identify the cause of multiple symptoms such as your sons. Testing may include urine testing, blood testing for certain laboratory tests as well as genetic testing, testing of mitochondrial function with blood tests, and in some cases skin or muscle biopsy. Without knowing a specific diagnosis, referring you to references for further information becomes difficult.  I agree and do recommend that your son be seen by a pediatric neurologist or metabolic specialist such as the ones you have mentioned above.

Thank you for this opportunity to answer your questions, I hope you find the information I have provided useful, good luck.

[mahre]

I really appreciate having the opportunity to tell you my concerns and have you respond.  I am very greatful.  I forgot to thank you in my previous not. My pediatrician said he would write a referral to the Cleveland Clinic for us.  Other moms whos children I know have mitochondrial disorders have been encouraging me to go and suggested the following doctors.  Are these the doctors I should see or who?  I told the pediatrician these names, but said any pediatric neurologist at the Cleveland Clinic who will take us.
Dr. Marvin Natowicz or Dr. Parikh
Who should I tell the pediatrician to refer us to?

I could at many other strange symptoms to my sons list, but another important one is a left sided weakness.  He is pretty much nonverbal.  He can sometimes say mom and dad and about 25 other words, but not clearly.  His understanding of simple commands such as yes and no is intermittent.  He is very smart is certain things, but struggles with language. He does not look sick to the average onlooker.  He did before the carnitine.  The Carnitine has truly done miracles!

Thank you so much!