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short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency)
Pathology:
- acute acidosis & muscle weakness in infants
- a form of lipid-storage myopathy in adults
Genetics:
- autosomal recessive
- associated with defects in ACADS gene
General
lipid metabolism, inborn error; lipid storage disease; lipidosis
Database Correlations
OMIM 201470
References
OMIM :accession 201470