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.
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Abbreviations
- CoA:
-
co-enzyme A
- ETF:
-
electron transfer flavoprotein
- LCAD:
-
long-chain acyl-CoA dehydrogenase
- MCAD:
-
medium-chain acyl-CoA dehydrogenase
- SCAD:
-
short-chain acyl-CoA dehydrogenase
References
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Sewell, A.C., Herwig, J., Böhles, H. et al. A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. Eur J Pediatr 152, 922–924 (1993). https://doi.org/10.1007/BF01957531
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DOI: https://doi.org/10.1007/BF01957531