Short chain acyl-CoA dehydrogenase deficiency

Orpha code: 26792OMIM code: 201470

Definition

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
Classification

Disease

Synonyms
ACADS deficiency
Niedobór ACADS
Niedobór SCAD
SCADD
SCAD deficiency
SCADD
ORPHA code
26792
OMIM code
201470
ICD10 code
E71.3
ICD11 code
-

No additional description.

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