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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 northern Finland. To understand the genetic background of this high incidence, we examined the GCS in a typical case of NKH...

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Identifiers

PMID: 1634607
DOI: 10.1172/JCI115831
PMCID: PMC443076

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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