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Case Reports
. 1993 Nov;152(11):922-4.
doi: 10.1007/BF01957531.

A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria

A C Sewell  1 , J Herwig, H Böhles, P Rinaldo, A Bhala, D E Hale
Affiliations
Case Reports

A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria

A C Sewell et al. Eur J Pediatr. 1993 Nov.

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.

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