ArticleJournal of inherited metabolic disease2001
Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia.
Article in Journal of inherited metabolic disease, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
57 citing papers in PubMed, 150 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
- Review
- Transcriptional control of a metabolic switch regulating cellular methylation reactions is part of a common response to stress in divergent bee species.The Journal of experimental biology · 2024Article
- Metaboloepigenetics in cancer, immunity, and cardiovascular disease.Cardiovascular research · 2023Review
- Article
- One Omics Approach Does Not Rule Them All: The Metabolome and the Epigenome Join Forces in Haematological Malignancies.Epigenomes · 2021Review
- S-adenosylmethionine induces mitochondrial dysfunction, permeability transition pore opening and redox imbalance in subcellular preparations of rat liver.Journal of bioenergetics and biomembranes · 2021Article
- 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) dysregulates hepatic one carbon metabolism during the progression of steatosis to steatohepatitis with fibrosis in mice.Scientific reports · 2020Article
- No Dataset Left Behind: Mechanistic Insights into Thyroid Receptor Signaling Through Transcriptomic Consensome Meta-Analysis.Thyroid : official journal of the American Thyroid Association · 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
- The Contribution of Homocysteine Metabolism Disruption to Endothelial Dysfunction: State-of-the-Art.International journal of molecular sciences · 2019Review
- Homeostatic impact of sulfite and hydrogen sulfide on cysteine catabolism.British journal of pharmacology · 2019Review
- Sink into the Epigenome: Histones as Repositories That Influence Cellular Metabolism.Trends in endocrinology and metabolism: TEM · 2018Review
- Metabolism and Epigenetic Interplay in Cancer: Regulation and Putative Therapeutic Targets.Frontiers in genetics · 2018Review
- Endocrine-disrupting chemicals and fatty liver disease.Nature reviews. Endocrinology · 2017Review
- Interplay between epigenetics and metabolism in oncogenesis: mechanisms and therapeutic approaches.Oncogene · 2017Review
- Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.Journal of inherited metabolic disease · 2017Review
- Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?JIMD reports · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 8 institutions in 4 countries.
Funding
Abstract
This paper reports clinical and metabolic studies of two Italian siblings with a novel form of persistent isolated hypermethioninaemia, i.e. abnormally elevated plasma methionine that lasted beyond the first months of life and is not due to cystathionine beta-synthase deficiency, tyrosinaemia I or liver disease. Abnormal elevations of their plasma S-adenosylmethionine (AdoMet) concentrations proved they do not have deficient activity of methionine adenosyltransferase I/III. A variety of studies provided evidence that the elevations of methionine and AdoMet are not caused by defects in the methionine transamination pathway, deficient activity of methionine adenosyltransferase II, a mutation in methylenetetrahydrofolate reductase rendering this activity resistant to inhibition by AdoMet, or deficient activity of guanidinoacetate methyltransferase. Plasma sarcosine (N-methylglycine) is elevated, together with elevated plasma AdoMet in normal subjects following oral methionine loads and in association with increased plasma levels of both methionine and AdoMet in cystathionine beta-synthase-deficient individuals. However, plasma sarcosine is not elevated in these siblings. The latter result provides evidence they are deficient in activity of glycine N-methyltransferase (GNMT). The only clinical abnormalities in these siblings are mild hepatomegaly and chronic elevation of serum transaminases not attributable to conventional causes of liver disease. A possible causative connection between GNMT deficiency and these hepatitis-like manifestations is discussed. Further studies are required to evaluate whether dietary methionine restriction will be useful in this situation.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.