Short chain acyl-CoA dehydrogenase deficiency

Orpha code: 26792OMIM code: 201470

Definicja

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.

Disease data
Klasyfikacja

Disease

Synonimy
ACADS deficiency
Niedobór ACADS
Niedobór SCAD
SCADD
SCAD deficiency
SCADD
Kod ORPHA
26792
Kod OMIM
201470
Kod ICD10
E71.3
Kod ICD11
-

No additional description.

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