ArticleAmerican journal of human genetics2019
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 2 of them syntheses that pooled it.
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
52 citing papers in PubMed, 2 syntheses or guidelines pooled it, 79 citations in OpenAlex.
- Meta-analysis of the effect of PGM on survival prognosis of tumor patients.Frontiers in oncology · 2022Pooled it
- International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.Journal of inherited metabolic disease · 2021Guideline
- D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial.Orphanet journal of rare diseases · 2021Trial
- Metabolomic, lipidomic, and N-glycomic analyses of a human cell model of Krabbe disease reveal treatable deficits in glycosylation and serine-ceramide metabolism.bioRxiv : the preprint server for biology · 2026Article
- The Downregulation of Type 1 Diabetes Susceptibility Gene PGM1 Induces Metabolic Imbalance and Stress in Pancreatic β-Cells.Diabetes · 2026Article
- Endocrine Implications of Congenital Disorders of GlycosylationJournal of clinical research in pediatric endocrinology · 2026Review
- PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes.Journal of translational medicine · 2026Article
- Diagnostic challenges and mimicking disorders of Wilson's Disease: A comprehensive review.Caspian journal of internal medicine · 2026Review
- Dietary resveratrol improves meat quality and antioxidant capacity of Tibetan sheep by regulating muscle fiber characteristics and mitochondrial function.Frontiers in nutrition · 2026Article
- Resolving Hexose-Phosphates by LC-MS Leads to New Insights in PGM1-CDG Pathophysiology.ACS omega · 2025Article
- Are viral vector-mediated therapies compatible with aberrant glycosylation?Molecular therapy. Methods & clinical development · 2025Article
- Advancement in Clinical Glycomics and Glycoproteomics for Congenital Disorders of Glycosylation: Progress and Challenges Ahead.Biomedicines · 2025Review
- Degradation of IRF6 by TRIM59 in tumor cells triggers PGM1-mediated glycolysis to regulate cell proliferation in neuroblastoma.Cell death & disease · 2025Article
- Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation.Cellular and molecular life sciences : CMLS · 2025Article
- Outcome of creatine supplementation therapy in phosphoglucomutase-1 deficiency associated congenital disorders of glycosylation: Novel insights.Molecular genetics and metabolism reports · 2025Article
- Article
- Diagnostic and Therapeutic Approaches in Congenital Disorders of Glycosylation.Handbook of experimental pharmacology · 2025Review
- Article
- Coagulation abnormalities and vascular complications are common in PGM1-CDG.Molecular genetics and metabolism · 2024Article
- Metabolic Signaling in Cancer Metastasis.Cancer discovery · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
25 authors at 14 institutions in 8 countries.
Funding
Abstract
Phosphoglucomutase 1 (PGM1) encodes the metabolic enzyme that interconverts glucose-6-P and glucose-1-P. Mutations in PGM1 cause impairment in glycogen metabolism and glycosylation, the latter manifesting as a congenital disorder of glycosylation (CDG). This unique metabolic defect leads to abnormal N-glycan synthesis in the endoplasmic reticulum (ER) and the Golgi apparatus (GA). On the basis of the decreased galactosylation in glycan chains, galactose was administered to individuals with PGM1-CDG and was shown to markedly reverse most disease-related laboratory abnormalities. The disease and treatment mechanisms, however, have remained largely elusive. Here, we confirm the clinical benefit of galactose supplementation in PGM1-CDG-affected individuals and obtain significant insights into the functional and biochemical regulation of glycosylation. We report here that, by using tracer-based metabolomics, we found that galactose treatment of PGM1-CDG fibroblasts metabolically re-wires their sugar metabolism, and as such replenishes the depleted levels of galactose-1-P, as well as the levels of UDP-glucose and UDP-galactose, the nucleotide sugars that are required for ER- and GA-linked glycosylation, respectively. To this end, we further show that the galactose in UDP-galactose is incorporated into mature, de novo glycans. Our results also allude to the potential of monosaccharide therapy for several other CDG.
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.