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

Internet

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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