CHARGE Syndrome Canada Newsletter SPECIAL EDITION 2007 Vol. 1 No.15 © copywrite |
Carnitine deficiency in CHARGE syndrome
International CHARGE Syndrome conference summary
Dr. vanDijk shares Russian research
Behaviour Boarderline Personality Disorder
Past Edition of the Newsletter
Carnitine Deficiency in CHARGE Syndrome
"...my child has been diagnosed with a L-carnitine deficiency. Are there other children with CHARGE who have found this, and do we know more about what the effects may be?"
Carnitine is a naturally occuring amino acid that is produced in the kidneys, brain and liver. It transfers long-chain fatty acids into mitochondria for beta-oxidation and helps energy centers in the muscles. When deficiency occurs, it prevents the body from using fats for energy and can be linked to poor growth, low blood sugar, confusion, vomitting, and muscle weakness. It helps maintain the health of nerves.
Growth hormones are thought to be triggered by L-carnitine combined with other amino acids such as L-arginine and L-ornithine. Another amino acid L-glutamine also works to help build proteins in muscles, as well build necessary proteins for the immune system and the protective lining of the intestines. (Wilmore DW, Shabert Jk. Role of glutamine in immunological response. Nutrition 1998:12 (7&8); 618-626) Using a combination of these amino acids as beneifical to children with CHARGE has not been studied.
Foods that are high in cartinine include dairy products, which many of the children with CHARGE cannot have because of allergy and intollerances. It is also found in meat, poultry and fish which are often not favourite foods of children who are beginning to eat orally! It is also found in nuts and chocolate.
The extent of cases in CHARGE syndrome with carnitine deficiency are not known, or if poor diet and cranial nerve involvement are factors, or if it is an additional metabolic disorder. Cases of rare genetic deficiencies do occur in general populations. The deficiency has also been linked to those who have suffered oxygen depreivation which can occur in some heart conditions as well as sleep apnea. (Del Vavero A. Carnitine and gangliosides. lancet 1988; 2:337 [letter])
In the US, the FDA approved Carnitor SF (Levocarnitine) Sugar-Free Oral Solution in June 2007. Previously there was nothing available for patients with carntine deficiency who needed to limit sugar intake. (Dr. Darryl De Vivo, Associate Chairman (Neurology for Pediatric Neurosciences, Columbia University Medical Center). It is produced by Sigma-Tau Pharmaceuticals, Inc, a subsidiary of the Sigma-Tau Group that is dedicated to the development of medicines for patients with rare diseases.
Canada has often put Carnitine supplements on a "hit" list, such as in 2005 when its use was deregulated, although it was still being used in infant formula. Natural therapists now do use a product from Genestra (Seroyal) called Amino L-carnitine.
~ Report by Ann Gloyn, Education Specialist
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