Article
Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
Journal of human genetics - 1 Jan 1998
Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y
Abstract excerpt
The E2 gene of the branched-chain alpha-keto acid dehydrogenase (BCKDH) complex was studied at the molecular level in three patients with intermittent maple syrup urine disease (MSUD). All three patients had higher BCKDH activity than did those with the classical phenotype. In the first patient,...
Topics
- 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
- Acyltransferases
- Amino Acids, Branched-Chain
- Base Sequence
- Cells, Cultured
- Child, Preschool
- Consanguinity
- DNA
- DNA Mutational Analysis
- Exons
- Female
- Genes
- Genotype
- Humans
- Infant, Newborn