Article
Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.
American journal of human genetics - 1 Aug 1994
Chuang J L, Fisher C R, Cox R P, Chuang D T
Abstract excerpt
We report the occurrence of three novel mutations in the E1 alpha (BCKDHA) locus of the branched-chain alpha-keto acid dehydrogenase (BCKAD) complex that cause maple syrup urine disease (MSUD). An 8-bp deletion in exon 7 is present in one allele of a compound-heterozygous patient (GM-649). A sing...
Topics
- 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
- Base Sequence
- Cysteine
- DNA Mutational Analysis
- DNA Primers
- Female
- Fibroblasts
- Humans
- Infant
- Ketone Oxidoreductases
- Male
- Maple Syrup Urine Disease
- Molecular Sequence Data
- Multienzyme Complexes