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A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria |
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| Authors: | A C Sewell J Herwig H Böhles P Rinaldo A Bhala D E Hale |
| Institution: | (1) Department of Paediatrics, University Children's Hospital, Theodor-Stern-Kai 7, D-60596 Frankfurt am Main, Germany;(2) Department of Genetics, Yale University, New Haven, Connecticut, USA;(3) Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA |
| 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: | Fatty acid oxidation Ethylmalonic acid Short-chain acyl-CoA dehydrogenase deficiency |
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