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 › peer-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 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 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

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10.1007/BF01957531

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title = "A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria",

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 = "Ethylmalonic acid, Fatty acid oxidation, Short-chain acyl-CoA dehydrogenase deficiency",

author = "Sewell, {A. C.} and J. Herwig and H. B{\"o}hles and P. Rinaldo and A. Bhala and Hale, {D. E.}",

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AU - Sewell, A. C.

AU - Herwig, J.

AU - Böhles, H.

AU - Rinaldo, P.

AU - Bhala, A.

AU - Hale, D. E.

PY - 1993/11

Y1 - 1993/11

N2 - 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.

AB - 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.

KW - Ethylmalonic acid

KW - Fatty acid oxidation

KW - Short-chain acyl-CoA dehydrogenase deficiency

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

Abstract

Keywords

ASJC Scopus subject areas

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