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) |
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Pages (from-to) | 922-924 |
Number of pages | 3 |
Journal | European Journal of Pediatrics |
Volume | 152 |
Issue number | 11 |
DOIs | |
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