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

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
, Daniel Hale

Research output: Contribution to journal › Article › peer-review

43 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

All Science Journal Classification (ASJC) codes

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.",

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

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AU - Sewell, A. C.

AU - Herwig, J.

AU - Böhles, H.

AU - Rinaldo, P.

AU - Bhala, A.

AU - Hale, Daniel

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.

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SP - 922

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JO - European Journal of Pediatrics

JF - European Journal of Pediatrics

IS - 11

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

Abstract

All Science Journal Classification (ASJC) codes

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