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2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report

20 Sept 2007

Abstract excerpt

BACKGROUND: 2-methylbutyryl-CoA dehydrogenase deficiency or short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is caused by a defect in the degradation pathway of the amino acid L-isoleucine. METHODS: We report a four-year-old mentally retarded Somali boy with autism and a history of seizures, who was found to excrete increased amounts of 2-methylbutyryl glycine in the urine. The SBCAD gene was...

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PMID: 17883863
DOI: 10.1186/1752-1947-1-98

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