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Article

Two novel missense mutations in nonketotic hyperglycinemia.

Journal of child neurology - 1 May 2015

Yilmaz Berna Seker, Kor Deniz, Ceylaner Serdar, Mert Gulen Gul, Incecik Faruk, Kartal Erkan, Mungan Neslihan Onenli

Abstract excerpt

Nonketotic hyperglycinemia (OMIM no. 605899) is an autosomal recessively inherited glycine encephalopathy, caused by a deficiency in the mitochondrial glycine cleavage system. Here we report 2 neonates who were admitted to the hospital with complaints of respiratory failure and myoclonic seizures...

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Share to Homozygote
Share to Epilepsies, Myoclonic
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycine

Share to Infant, Newborn

Share to Mutation, Missense

Share to Respiratory Insufficiency

Share to RNA Splicing

Source

Identifiers

PMID: 24838951
DOI: 10.1177/0883073814535499

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24838951-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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