Blood test
The team hopes to conduct a properly controlled clinical trial looking at whether dietary supplements ease the children’s symptoms. To that end, Gleeson wants to identify further patients with mutations in the gene for BCKD-kinase. They are likely to be very scarce, he says, but metabolic screening and genome sequencing should identify some. “They’re hiding out there,” he adds.

Matthew Anderson, a physician-scientist at Beth Israel Deaconess Medical Center and Harvard Medical School in Boston, Massachusetts, says that the study will encourage other researchers to explore metabolic pathways as causes of autism. A number of uncommon metabolic disorders, such as phenylketonuria — in which the body can't break down the amino acid phenylalanine — can be linked to autism spectrum disorder if left untreated². Many more such connections may be lurking in clinics.

“If 5 or 10% are caused by metabolic disorders and there’s a simple imbalance that one can correct with nutrition, that’s something that human genetics will identify over the next five to ten years,” says Daniel Geschwind, a neurogeneticist at the University of California, Los Angeles. “That’s exciting.”

This article is reproduced with permission from the magazine Nature. The article was first published on September 6, 2012.

1 Comments

1. 1. sunnystrobe 09:52 AM 9/14/12

   Nutritional'Amino Acid Deficiency' may indeed be found to underlie not only autism, but many if not most of our vexatious dis-orders and dis-eases, and Daniel Geschwind at U.C.L.A may prove to have been a true prophet here, pointing to 'a simple imbalance that one can correct with NUTRITION" ,and finding this 'exciting'.
   What I find strange though: WHY has NOBODY amongst Sci Am readers found this research report exciting yet ? There's NOT ONE comment! (in stark contrast to 70 plus YES or NO- commentaries whether or not to oust that strange bird prototype 'Archaeopterix' from textbooks, no doubt fuelled by Creationist vs.Evolutionistic fervour!)
   The NEW SCIENTIST, by the way, in its latest issue, has also an interesting article with a bold heading:
   Eat yourself into Dementia! Worth the read.
   Youthevity.com
   
   )
   

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