A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria.
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.
Sewell
A C
AC
Department of Paediatrics, University Children's Hospital, Frankfurt am Main, Germany.
Herwig
J
J
Böhles
H
H
Rinaldo
P
P
Bhala
A
A
Hale
D E
DE
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
D008314:Malonates; C038080:ethylmalonic acid; D044944:Acyl-CoA Dehydrogenases