Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder, caused by mutations in the ACADM gene. It is the most commonly recognized defect of mitochondrial beta-oxidation and is potentially fatal. The clinical manifestations are diverse, but usually they include fasting induced non-ketotic hypoglycemia with lethargy which may develop into coma.
Andresen BS, Bross P, Udvari S, Kirk J, Gray G, Kmoch S, Chamoles N, Knudsen I, Winter V, Wilcken B, Yokota I, Hart K, Packman S, Harpey JP, Saudubray JM, Hale DE, Bolund L, Kolvraa S, Gregersen N
タイトル
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
