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.
Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, Bross P
タイトル
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.
