SCAD deficiency

Definition:

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare mitochondrial fatty acid oxidation disorder, caused by mutations in the ACADS gene. The clinical features range from hypoglycemia and vomiting to hypotonia and seizures accompanied with developmental delay.

References:

[1]. M J Corydon, et al. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res. 2001 Jan;49(1):18-23. [Content Brief]

[2]. N Gregersen, et al. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum Mutat. 2001 Sep;18(3):169-89. [Content Brief]

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