ArticleJIMD reports2017
Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?
Article in JIMD reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 14 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
- High levels of blood glutamic acid and ornithine in children with intellectual disability.International journal of developmental disabilities · 2022Article
- S-adenosylmethionine induces mitochondrial dysfunction, permeability transition pore opening and redox imbalance in subcellular preparations of rat liver.Journal of bioenergetics and biomembranes · 2021Article
- Withdrawal Effects Following Methionine Exposure in Adult Zebrafish.Molecular neurobiology · 2020Article
- Choline-related-inherited metabolic diseases-A mini review.Journal of inherited metabolic disease · 2019Review
- Amino acid disorders.Annals of translational medicine · 2018Review
- Differential expression of NPM, GSTA3, and GNMT in mouse liver following long-termBioscience reports · 2018Article
- Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.Journal of inherited metabolic disease · 2017Review
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Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glycine N-methyltransferase deficiency is an inherited disorder of methionine metabolism, reported so far in only four patients and characterised by permanent hypermethioninemia. This disorder has been considered as probably benign because moderate hepatomegaly in two patients was the only obvious symptom and mild to moderate elevation of aminotransferases the only laboratory abnormality. Our experience with the current novel patient points out that this disease, due to very high hypermethioninemia, is not harmless and that there may be diagnostic pitfalls in interpretation of biochemical hallmarks of the disease. Since the first description of glycine N-methyltransferase deficiency, other disorders of this metabolic pathway affecting the liver have been reported pointing to dysmethylation as the common pathogenetic mechanism. Therefore, we suggest the whole group to be named dysmethylating liver diseases.
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