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.
- Ethylmalonic acid
- Fatty acid oxidation
- Short-chain acyl-CoA dehydrogenase deficiency
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health