Article
Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase.
Human genetics - 1 May 1992
Crane A M, Martin L S, Valle D, Ledley F D
Abstract excerpt
We have previously identified a mutation in the gene for methylmalonyl CoA mutase in a patient with the mut- phenotype of methylmalonic aciduria. This mutation (G717V) interferes with the binding of the deoxyadenosylcobalamin cofactor to the apoenzyme producing a mutant holoenzyme that is defective, but not completely inactive, in vitro. This report describes the clinical phenotype associated with this mutation...
Topics
- Acidosis
- Base Sequence
- Child, Preschool
- Homozygote
- Humans
- Infant
- Methylmalonic Acid
- Methylmalonyl-CoA Mutase
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Phenotype