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Article

Nonketotic Hyperglycinemia of Infants in Taiwan.

Pediatrics and neonatology - 1 Oct 2016

Chiu Chiao-Fan, Lin Ju-Li, Lin Jainn-Jim, Tseng Min-Hua, Lo Fu-Sung, Chiang Ming-Chou

Abstract excerpt

BACKGROUND: Nonketotic hyperglycinemia (NKH) is a rare, inherited disease, with very poor outcome. It is difficult to confirm the diagnosis due to nonspecific presentations and rapid progression. The incidence was reported in a few countries. We report the clinical and genetic features of typical neonatal NKH with novel splicing mutation, c.1058+3A>C, in the intron 7 of the glycine decarboxylase (GLDC) gene....

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Source

Identifiers

PMID: 26947380
DOI: 10.1016/j.pedneo.2015.10.008

Genes

GLDC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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