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A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria
A C Sewell1, J Herwig, H Böhles
1Department of Paediatrics, University Children's Hospital, Frankfurt am Main, Germany.
European Journal of Pediatrics
|November 1, 1993
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.