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

A. C. Sewell, J. Herwig, H. Böhles, P. Rinaldo, A. Bhala, Daniel Hale

Research output: Contribution to journalArticlepeer-review

42 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)922-924
Number of pages3
JournalEuropean Journal of Pediatrics
Volume152
Issue number11
DOIs
StatePublished - Nov 1 1993

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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