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

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 se...

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Detalles Bibliográficos
Autores principales:	Kanavin, Oivind J, Woldseth, Berit, Jellum, Egil, Tvedt, Bjorn, Andresen, Brage S, Stromme, Petter
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2007
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2045671/ https://www.ncbi.nlm.nih.gov/pubmed/17883863 http://dx.doi.org/10.1186/1752-1947-1-98

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