2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report
Open Access
- 20 September 2007
- journal article
- Published by Springer Science and Business Media LLC in Journal of Medical Case Reports
- Vol. 1 (1), 98
- https://doi.org/10.1186/1752-1947-1-98
Abstract
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.Keywords
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