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Article

Glycine N -methyltransferase deficiency: a new patient with a novel mutation.

Journal of inherited metabolic disease - 1 Jan 2003

Augoustides-Savvopoulou P, Luka Z, Karyda S, Stabler S P, Allen R H, Patsiaoura K, Wagner C, Mudd S H

Abstract excerpt

We report studies of a Greek boy of gypsy origin that show that he has severe deficiency of glycine N -methyltransferase (GNMT) activity due to apparent homozygosity for a novel mutation in the gene encoding this enzyme that changes asparagine-140 to serine. At age 2 years he was found to have mildly elevated serum liver transaminases that have persisted to his present age of 5 years. At age 4 years,...

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Identifiers

PMID: 14739680
DOI: 10.1023/B:BOLI.0000009978.17777.33

Genes

GNMT

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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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