Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency.
Two HLA-identical twin sisters are reported, of whom one has remained essentially asymptomatic, and an episode of hypotonia and decreased level of conciousness 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.


CONCLUSIONS
The lack of appropriate biochemical markers for this deficiency makes the diagnosis difficult and consequently, the low number of patients described may be the result of underdiagnosis.
Ribes
A
A
Department of Inborn Errors of Metabolism, Corporació Sanitària Edificio Helios III, Barcelona, Spain.
Riudor
E
E
Garavaglia
B
B
Martinez
G
G
Arranz
A
A
Invernizzi
F
F
Briones
P
P
Lamantea
E
E
Sentís
M
M
Barceló
A
A
Roig
M
M
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004200:Diseases in Twins / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008314:Malonates / Q000652:urine; D014430:Twins, Monozygotic / Q000235:genetics
D008314:Malonates; C038080:ethylmalonic acid; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase