title: A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria.
abstract: A 28-month-old Turkish girl presented with recurrent bronchopneumonia and severe muscular hypotonia. Urinary excretion of ethylmalonic acid was persistently elevated, methylsuccinate appearing only in stress situations. Studies in cultured fibroblasts showed a deficiency of short-chain acyl-CoA dehydrogenase.
authors.affiliation: Department of Paediatrics, University Children's Hospital, Frankfurt am Main, Germany.
authors.forename: A C
authors.initials: AC
authors.lastname: Sewell
authors.forename: J
authors.initials: J
authors.lastname: Herwig
authors.forename: H
authors.initials: H
authors.lastname: Böhles
authors.forename: P
authors.initials: P
authors.lastname: Rinaldo
authors.forename: A
authors.initials: A
authors.lastname: Bhala
authors.forename: D E
authors.initials: DE
authors.lastname: Hale
mesh_terms: D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D001996:Bronchopneumonia / Q000209:etiology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications / Q000652:urine*; D008314:Malonates / Q000652:urine*; D009123:Muscle Hypotonia / Q000209:etiology
chemical_list: D008314:Malonates; C038080:ethylmalonic acid; D044944:Acyl-CoA Dehydrogenases