Two HLA-identical twin sisters are reported, of whom one has remained essentially asymptomatic, and an episode of hypotonia and decreased level of consciousness being the only relevant clinical finding in the other. Organic acid analysis revealed that ethylmalonate was constantly, although sometimes only slightly, increased. No abnormal acylglycines or acylcarnitines could be detected. Enzyme assay in cultured skin fibroblasts confirmed short-chain acyl-CoA dehydrogenase deficiency. Conclusion. The lack of appropiate biochemical markers for this deficiency makes the diagnosis difficult and consequently the low number of patients described may be the result of the diagnosis.
- Ethylmalonic aciduria
- Mitochondrial fatty acid oxidation
- Short-chain acyl-CoA dehydrogenase deficiency
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health