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 journalArticle

41 Citations (Scopus)

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

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Bronchopneumonia
Muscle Hypotonia
Fibroblasts
ethylmalonic acid
Short chain Acyl CoA dehydrogenase deficiency

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Sewell, A. C. ; Herwig, J. ; Böhles, H. ; Rinaldo, P. ; Bhala, A. ; Hale, Daniel. / A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. In: European Journal of Pediatrics. 1993 ; Vol. 152, No. 11. pp. 922-924.
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A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. / Sewell, A. C.; Herwig, J.; Böhles, H.; Rinaldo, P.; Bhala, A.; Hale, Daniel.

In: European Journal of Pediatrics, Vol. 152, No. 11, 01.11.1993, p. 922-924.

Research output: Contribution to journalArticle

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AU - Herwig, J.

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AU - Hale, Daniel

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