Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene

摘要: Medium chain acyl-CoA dehydrogenase (MCAD) catalyzes the first reaction of beta-oxidation cycle for 4-10-carbon fatty acids. MCAD deficiency is one most frequent inborn metabolic disorders in populations northwestern European origin. In compilation data from a worldwide study 172 unrelated patients each representing an independent pedigree, total 8 different mutations have been identified. Among them, single prevalent mutation, 985A-->G, was found 90% 344 variant alleles. 985A-->G causes glutamate substitution lysine-304 mature subunit, which impairment tetramer assembly and instability protein. Three 7 rarer identified few patients, while remaining 4 only pedigree. addition to tabulating mutations, gene family, structure evolution mutation are briefly discussed.