Article
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.
The Journal of clinical investigation - 1 Jul 1992
Kure S, Takayanagi M, Narisawa K, Tada K, Leisti J
Abstract excerpt
Nonketotic hyperglycinemia (NKH) is an autosomal recessive metabolic disorder caused by the defects in the glycine cleavage system (GCS; EC 2.1.2.10), a multienzyme system that consists of four individual components. NKH is a rare disorder in many countries, but with a very high incidence in nort...
Topics
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Sequence
- Base Sequence
- Finland
- Genotype
- Glycine
- Humans
- Molecular Sequence Data
- Mutation
- Prevalence