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

doi:10.1007/BF01957531

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 journal › Article

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 language	English (US)
Pages (from-to)	922-924
Number of pages	3
Journal	European Journal of Pediatrics
Volume	152
Issue number	11
DOIs	https://doi.org/10.1007/BF01957531
State	Published - Nov 1 1993
Externally published	Yes

Keywords

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

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

Access to Document

10.1007/BF01957531

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Sewell, A. C., Herwig, J., Böhles, H., Rinaldo, P., Bhala, A., & Hale, D. E. (1993). A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. European Journal of Pediatrics, 152(11), 922-924. https://doi.org/10.1007/BF01957531

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AU - Böhles, H.

AU - Rinaldo, P.

AU - Bhala, A.

AU - Hale, D. E.

PY - 1993/11/1

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