Article
Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency.
The Journal of clinical investigation - 1 Oct 1995
Ubagai T, Lei K J, Huang S, Mudd S H, Levy H L, Chou J Y
Abstract excerpt
Methionine adenosyltransferase (MAT) is a key enzyme in transmethylation, transsulfuration, and the biosynthesis of polyamines. Genetic deficiency of alpha/beta-MAT causes isolated persistent hypermethioninemia and, in some cases, unusual breath odor or neural demyelination. However, the molecular mechanism(s) underlying this deficiency has not been clearly defined. In this study, we characterized the human...
Topics
- Amino Acid Metabolism, Inborn Errors
- Base Sequence
- Female
- Humans
- Methionine
- Methionine Adenosyltransferase
- Molecular Sequence Data
- Mutation
- Polymorphism, Single-Stranded Conformational
- Transcription, Genetic