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, D. E. Hale

Research output: Contribution to journalArticle

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
Externally publishedYes

Keywords

  • Ethylmalonic acid
  • Fatty acid oxidation
  • Short-chain acyl-CoA dehydrogenase deficiency

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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