ArticleOrphanet journal of rare diseases2015
Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation.
Article in Orphanet journal of rare diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.Journal of inherited metabolic disease · 2020Pooled it
- Trial Interviews to Explore Glycogen Storage Disease Type Ia Patient Experiences Following Gene Therapy.Journal of health economics and outcomes research · 2026Article
- Increased 1-deoxysphingolipids caused by an altered plasma alanine to serine ratio are associated with metabolic dysfunction-associated steatotic liver disease (MASLD).Metabolomics : Official journal of the Metabolomic Society · 2025Article
- Impact of Flash Glucose Monitoring in Adults with Inherited Metabolic Disorders at Risk of Hypoglycemia.Nutrients · 2025Article
- Diabetes in a Patient with Glycogen Storage Disease Type 1a.Internal medicine (Tokyo, Japan) · 2024Article
- Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care.Reviews in endocrine & metabolic disorders · 2024Review
- Medium-Chain Triglyceride Oil and Dietary Intervention Improved Body Composition and Metabolic Parameters in Children with Glycogen Storage Disease Type 1 in Jordan: A Clinical Trial.Foods (Basel, Switzerland) · 2024Article
- Article
- Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia.Genes & nutrition · 2023Article
- Current understanding on pathogenesis and effective treatment of glycogen storage disease type Ib with empagliflozin: new insights coming from diabetes for its potential implications in other metabolic disorders.Frontiers in endocrinology · 2023Review
- Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I.Journal of inherited metabolic disease · 2022Observational
- Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.Nutrients · 2021Review
- An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use.Frontiers in endocrinology · 2021Review
- Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement.Orphanet journal of rare diseases · 2020Article
- Bisphenol A: an emerging threat to female fertility.Reproductive biology and endocrinology : RB&E · 2020Review
- Observational
- Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?Journal of inherited metabolic disease · 2018Article
- Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy.Journal of inherited metabolic disease · 2018Article
- Biochemical and clinical aspects of glycogen storage diseases.The Journal of endocrinology · 2018Review
- Diabetes mellitus in a patient with glycogen storage disease type Ia: a case report.Journal of medical case reports · 2017Article
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIn GSDIa, glucose 6-phosphate (G6P) accumulates in the endoplasmic reticulum (ER); in GSDIb, G6P levels are reduced in ER. G6P availability directly modulates the activity of 11β-hydroxysteroid dehydrogenase type 1 (11βHSD1), an ER-bound enzyme playing a key role in the development of the metabolic syndrome (MS).
objectiveTo evaluate the prevalence of MS and Insulin Resistance (IR) in GSDIa and GSDIb patients. PATIENTS AND
methodsThis was a prospective study. All the enrolled patients were followed at the Department of Pediatrics "Federico II" University of Naples for 10 years. Clinical and biochemical parameters of MS and the presence of IR were recorded. The results were correlated with the biochemical parameters of GSDI-related metabolic control. 10 GSDIa patient (median age 12.10 ± 1.50), 7 GSDIb patients (median age 14.90 ± 2.20 were enrolled in the study. They were compared to 20 and 14 age and sex matched controls, respectively. 10 GSDIa patients (median age 24.60 ± 1.50) and 6 GSDIb patients (median age 25.10 ± 2.00) completed the 10-year-follow-up. At the end of the study the patients' data were compared to 10 and 6 age and sex matched controls, respectively.
resultsAt study entry, 20 % GSDIa patients had MS and 80 % showed 2 criteria for MS. GSDIa patients showed higher HOMA-IR than controls and GSDIb patients (p < 0.001, p < 0.05), respectively. Baseline ISI was lower in GSDIa than controls (p < 0.001). QUICKI was significantly lower in GSDIa than in controls (p < 0.001). At the end of the study 70 % of GSDIa patients had MS and 30 % showed 2 criteria for MS. HOMA-IR was higher in GSDIa than controls (p < 0.01). Baseline ISI was higher in GSDIb than controls (p < 0.005) and GSD1a (p < 0.05). QUICKI was lower in GSD1a patients than in controls (p < 0.03). VAI was higher in GSDIa patients than controls (p < 0.001) and GSDIb patients (p = 0.002).
conclusionsOur data showed high prevalence of IR and MS in GSDIa patients. We speculate a possible role of 11βHSD1 modulation by G6P availability. We suggest a routine metabolic assessment in GSDIa patients.
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