A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria
- 1 November 1993
- journal article
- case report
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 152 (11) , 922-924
- https://doi.org/10.1007/bf01957531
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.Keywords
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