ArticleJournal of inherited metabolic disease2003
Glycine N -methyltransferase deficiency: a new patient with a novel mutation.
Article in Journal of inherited metabolic disease, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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Who cites it
48 citing papers in PubMed, 84 citations in OpenAlex.
- GNMT and Its Regulatory MicroRNAs as Biomarkers and Therapeutic Targets for Metabolic Dysfunction-Associated Fatty Liver Disease and Hepatocellular Carcinoma.International journal of molecular sciences · 2026Review
- Methionine Adenosyltransferase 1A and S-Adenosylmethionine in Alcohol-Associated Liver Disease.Antioxidants (Basel, Switzerland) · 2025Review
- The complex role of glycine N-methyltransferase in metabolism-a review.Molecular biology reports · 2025Review
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- S-adenosylmethionine induces mitochondrial dysfunction, permeability transition pore opening and redox imbalance in subcellular preparations of rat liver.Journal of bioenergetics and biomembranes · 2021Article
- Comparing Gut Microbiome in Mothers' Own Breast Milk- and Formula-Fed Moderate-Late Preterm Infants.Frontiers in microbiology · 2020Article
- Gene Expression and DNA Methylation Alterations in the Glycine N-Methyltransferase Gene in Diet-Induced Nonalcoholic Fatty Liver Disease-Associated Carcinogenesis.Toxicological sciences : an official journal of the Society of Toxicology · 2019Article
- TGF-β1/p65/MAT2A pathway regulates liver fibrogenesis via intracellular SAM.EBioMedicine · 2019Article
- Choline-related-inherited metabolic diseases-A mini review.Journal of inherited metabolic disease · 2019Review
- Induction of GNMT by 1,2,3,4,6-penta-O-galloyl-beta-D-glucopyranoside through proteasome-independent MYC downregulation in hepatocellular carcinoma.Scientific reports · 2019Article
- Endocrine-disrupting chemicals and fatty liver disease.Nature reviews. Endocrinology · 2017Review
- Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?JIMD reports · 2017Article
- Methionine and methionine sulfoxide treatment induces M1/classical macrophage polarization and modulates oxidative stress and purinergic signaling parameters.Molecular and cellular biochemistry · 2017Article
- Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.Journal of inherited metabolic disease · 2017Review
- Glycine N-methyltransferase expression in the hippocampus and its role in neurogenesis and cognitive performance.Hippocampus · 2014Article
- Excess S-adenosylmethionine reroutes phosphatidylethanolamine towards phosphatidylcholine and triglyceride synthesis.Hepatology (Baltimore, Md.) · 2013Article
- A DNA methylation signature associated with the epigenetic repression of glycine N-methyltransferase in human hepatocellular carcinoma.Journal of molecular medicine (Berlin, Germany) · 2013Article
- Benzo[a]pyrene decreases global and gene specific DNA methylation during zebrafish development.Environmental toxicology and pharmacology · 2013Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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, hypermethioninaemia was discovered. Plasma methionine concentrations have ranged from 508 to 1049 micro mol/L. Several known causes of hypermethioninaemia were ruled out by studies of plasma metabolites: tyrosinaemia type I by a normal plasma tyrosine and urine succinylacetone; cystathionine beta-synthase deficiency by total homocysteine of 9.4-12.1 micro mol/L; methionine adenosyltransferase I/III deficiency by S -adenosylmethionine (AdoMet) levels elevated to 1643-2222 nmol/L; and S -adenosylhomocysteine (AdoHcy) hydrolase deficiency by normal AdoHcy levels. A normal plasma N -methylglycine concentration in spite of elevated AdoMet strongly suggested GNMT deficiency. Molecular genetic studies identified a missense mutation in the coding region of the boy's GNMT gene, which, upon expression, retained only barely detectable catalytic activity. The mild hepatitis-like manifestations in this boy are similar to those in the only two previously reported children with GNMT deficiency, strengthening the likelihood of a causative association. Although his deficiency of GNMT activity may well be more extreme, his metabolic abnormalities are not strikingly greater. Also discussed is the metabolic role of GNMT; several additional metabolite abnormalities found in these patients; and remaining questions about human GNMT deficiency, such as the long-term prognosis, whether other individuals with this defect are currently going undetected, and means to search for such persons.
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