2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case r...
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
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.
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-methylbutyry...
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Full title
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report
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TN_cdi_doaj_primary_oai_doaj_org_article_55586ca466504654b7eacfa82d2dde1a
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_55586ca466504654b7eacfa82d2dde1a
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ISSN
1752-1947
E-ISSN
1752-1947
DOI
10.1186/1752-1947-1-98
