Article
Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.
American journal of human genetics - 1 Jul 1991
Vockley J, Parimoo B, Tanaka K
Abstract excerpt
Isovaleric acidemia (IVA) is an inborn error of leucine metabolism and is caused by a genetically determined deficiency of isovaleryl-CoA dehydrogenase (IVD), a mitochondrial matrix enzyme. IVD is produced as a 45-kDa precursor and then is transported into the mitochondria, where it is processed...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- DNA
- Genes
- Hemiterpenes
- Humans
- Isovaleryl-CoA Dehydrogenase
- Molecular Sequence Data
- Mutation
- Oxidoreductases
- Oxidoreductases Acting on CH-CH Group Donors
- Pentanoic Acids
- Polymerase Chain Reaction