Article
Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients.
The Journal of clinical investigation - 1 Mar 1995
Chuang J L, Davie J R, Chinsky J M, Wynn R M, Cox R P, Chuang D T
Abstract excerpt
Maple syrup urine disease (MSUD) is caused by a deficiency of the mitochondrial branched-chain alpha-keta acid dehydrogenase (BCKAD) complex. The multienzyme complex comprises five enzyme components, including the E1 decarboxylase with a heterotetrameric (alpha 2 beta 2) structure. Four unrelated...
Topics
- 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
- Base Sequence
- Blotting, Northern
- Blotting, Western
- Cells, Cultured
- Child
- Child, Preschool
- Cloning, Molecular
- Decarboxylation
- Exons
- Female
- Fibroblasts
- Hemiterpenes
- Homozygote
- Humans