Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.
Medium chain acyl-CoA dehydrogenase (MCAD) catalyzes the first reaction of the beta-oxidation cycle for 4-10-carbon fatty acids. MCAD deficiency is one of the most frequent inborn metabolic disorders in populations of northwestern European origin. In the compilation of data from a worldwide study of 172 unrelated patients each representing an independent pedigree, a total of 8 different mutations have been identified. Among them, a single prevalent mutation, 985A-->G, was found in 90% of 344 variant alleles. 985A-->G causes glutamate substitution for lysine-304 in the mature MCAD subunit, which causes impairment of tetramer assembly and instability of the protein. Three of 7 rarer mutations have been identified in a few unrelated patients, while the remaining 4 have each been found in only a single pedigree. In addition to tabulating the mutations, the acyl-CoA dehydrogenase gene family, the structure of the MCAD gene and the evolution of 985A-->G mutation are briefly discussed.
Tanaka, K; Yokota, I; Coates, PM; Strauss, AW; Kelly, DP; Zhang, Z; Gregersen, N; Andresen, BS; Matsubara, Y; Curtis, D
Volume / Issue
Start / End Page
Pubmed Central ID
International Standard Serial Number (ISSN)
Digital Object Identifier (DOI)