Article
Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.
Human mutation - 1 Jan 1992
Tanaka K, Yokota I, Coates P M, Strauss A W, Kelly D P, Zhang Z, Gregersen N, Andresen B S, Matsubara Y, Curtis D
Abstract excerpt
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...
Topics
- Acyl-CoA Dehydrogenase
- Acyl-CoA Dehydrogenases
- Alleles
- Amino Acid Sequence
- Base Sequence
- Biological Evolution
- DNA
- DNA Mutational Analysis
- Humans
- Lipid Metabolism, Inborn Errors
- Molecular Sequence Data
- Point Mutation
- Polymorphism, Restriction Fragment Length