SchaferAutismReport: Defective Carnitine Metabolism May Play Role In Autism

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RESEARCH

Defective Carnitine Metabolism May Play Role In Autism

sciencecodex.com

The deletion of part of a gene

that plays a role in the synthesis of carnitine – an amino acid

derivative that helps the body use fat for energy – may play a role in

milder forms of autism, said a group of researchers led by those at Baylor College of Medicine and Texas Children's Hospital.

"This is a novel inborn error of

metabolism," said Dr. Arthur Beaudet, chair of molecular and human

genetics at BCM and a physician at Texas Children's Hospital, and the

senior author of the report that appears online in the Proceedings of

the National Academy of Sciences. "How it is associated with the causes

of autism is as yet unclear. However, it could point to a means of

treatment or even prevention in some patients."

Beaudet and his international group of

collaborators believe the gene deletion leads to an imbalance in

carnitine in the body. Meat eaters receive about 75 percent of their

carnitine from their diet. However, dietary carnitine levels are low in

vegetarians and particularly in vegans. In most people, levels of

carnitine are balanced by the body's ability to manufacture its own

carnitine in the liver, kidney and brain, starting with a modified form

of the amino acid lysine.

Carnitine deficiency has been identified

when not enough is absorbed through the diet or because of medical

treatments such as kidney dialysis. Genetic forms of carnitine

deficiency also exist, which are caused when too much carnitine is

excreted through the kidneys.

In this new inborn error, there is a

deletion in the second exon – the protein-coding portion of a gene – of

the TMLHE gene, which includes the genetic code for the first enzyme in

the synthesis of carnitine (TMLHE stands for trimethyllysine epsilon

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RESEARCH

Defective Carnitine Metabolism May Play Role In Autism

Neurodevelopmental Disorders: How Human Cells 'Hold Hands'

Response to First Treatment May Predict Epilepsy's Course

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