Ontology highlight
ABSTRACT:
SUBMITTER: Kanavin OJ
PROVIDER: S-EPMC2045671 | biostudies-literature | 2007
REPOSITORIES: biostudies-literature
Kanavin Oivind J OJ Woldseth Berit B Jellum Egil E Tvedt Bjorn B Andresen Brage S BS Stromme Petter P
Journal of medical case reports 20070920
<h4>Background</h4>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.<h4>Methods</h4>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 examined with sequence analysis. His development was assessed with psychomet ...[more]