ArticleTranslational research : the journal of laboratory and clinical medicine2018
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.
Article in Translational research : the journal of laboratory and clinical medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.Journal of inherited metabolic disease · 2021Guideline
- The Downregulation of Type 1 Diabetes Susceptibility Gene PGM1 Induces Metabolic Imbalance and Stress in Pancreatic β-Cells.Diabetes · 2026Article
- 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
- Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation.Molecular genetics and metabolism · 2023Article
- Genome-scale metabolic modeling of the human gut bacterium Bacteroides fragilis strain 638R.PLoS computational biology · 2023Article
- The Role of Clinical Glyco(proteo)mics in Precision Medicine.Molecular & cellular proteomics : MCP · 2023Article
- Regulation of mRNA and miRNA in the response to Salmonella enterica serovar Enteritidis infection in chicken cecum.BMC veterinary research · 2022Article
- High-Throughput Glycomic Methods.Chemical reviews · 2022Review
- Transthyretin proteoforms of intraocular origin in human subretinal fluid.Experimental eye research · 2022Article
- Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.Journal of inherited metabolic disease · 2022Article
- Treatment Options in Congenital Disorders of Glycosylation.Frontiers in genetics · 2021Review
- A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.JIMD reports · 2019Article
- A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethality.Journal of inherited metabolic disease · 2019Article
- Integrating mass spectrometry-based plasma (or serum) protein N-glycan profiling into the clinical practice?Annals of translational medicine · 2019Article
- Clinical glycomics in the diagnostic laboratory.Annals of translational medicine · 2019Article
- ProbingChemical science · 2019Article
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Authors and funding
14 authors at 10 institutions in 10 countries.
Funding
Abstract
Phosphoglucomutase 1 (PGM1) deficiency results in a mixed phenotype of a Glycogen Storage Disorder and a Congenital Disorder of Glycosylation (CDG). Screening for abnormal glycosylation has identified more than 40 patients, manifesting with a broad clinical and biochemical spectrum which complicates diagnosis. Together with the availability of D-galactose as dietary therapy, there is an urgent need for specific glycomarkers for early diagnosis and treatment monitoring. We performed glycomics profiling by high-resolution QTOF mass spectrometry in a series of 19 PGM1-CDG patients, covering a broad range of biochemical and clinical severity. Bioinformatics and statistical analysis were used to select glycomarkers for diagnostics and define glycan-indexes for treatment monitoring. Using 3 transferrin glycobiomarkers, all PGM1-CDG patients were diagnosed with 100% specificity and sensitivity. Total plasma glycoprofiling showed an increase in high mannose glycans and fucosylation, while global galactosylation and sialylation were severely decreased. For treatment monitoring, we defined 3 glycan-indexes, reflecting normal glycosylation, a lack of complete glycans (LOCGI) and of galactose residues (LOGI). These indexes showed improved glycosylation upon D-galactose treatment with a fast and near-normalization of the galactose index (LOGI) in 6 out of 8 patients and a slower normalization of the LOCGI in all patients. Total plasma glycoprofiling showed improvement of the global high mannose glycans, fucosylation, sialylation, and galactosylation status on D-galactose treatment. Our study indicates specific glycomarkers for diagnosis of mildly and severely affected PGM1-CDG patients, and to monitor the glycan-specific effects of D-galactose therapy.
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