Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (746 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Disease, Glycogen Storage; Diseases, Glycogen Storage; Glycogen Storage Diseases; Storage Disease, Glycogen; Storage Diseases, Glycogen; Glycogenosis; Glycogenoses.
Where it fits in the MeSH classification
- Broader topics
- Carbohydrate Metabolism, Inborn Errors
- Narrower topics
- Glycogen Storage Disease Type I; Glycogen Storage Disease Type II; Glycogen Storage Disease Type IIb; Glycogen Storage Disease Type III; Glycogen Storage Disease Type IV; Glycogen Storage Disease Type V; Glycogen Storage Disease Type VI; Glycogen Storage Disease Type VII; Glycogen Storage Disease Type VIII
Research landscape
PubMed indexes 7,348 records tagged with the MeSH heading “Glycogen Storage Disease” (counts retrieved 2026-10-29). 1,214 of them (16.5%) were published from 2020 onward, and the busiest period so far is through 1999 with 3,124 records.
Reviews account for 990 records (13.5%) and meta-analyses for 15. Randomized controlled trials number 57 (0.8%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 3,124 |
| 2000-2009 | 1,268 |
| 2010-2019 | 1,742 |
| 2020 onward | 1,214 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 990 | 13.5% |
| Meta-analyses | 15 | 0.2% |
| Randomized controlled trials | 57 | 0.8% |
Method: PubMed query "Glycogen Storage Disease"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in rare and inherited diseases
Rare conditions are difficult to study: few patients means small studies, case reports and registries are common, and randomized trials are the exception. Small samples limit precision and can exaggerate effects, and cases reported in the literature may be the most severe or unusual. Evidence from many small studies is best read together. Check how patients were identified, how many were included and how long they were followed.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs | 2021 | Review article Design not recorded in structured metadata | 56 | cc by PMID 34836082 · DOI · PMC8621617 |
| A Comprehensive Update on Late-Onset Pompe Disease | 2023 | Review article Design not recorded in structured metadata | 46 | cc by PMID 37759679 · DOI · PMC10526932 |
| The Liver and Glycogen: In Sickness and in Health | 2023 | Review article Design not recorded in structured metadata | 43 | cc by PMID 37047105 · DOI · PMC10094386 |
| Physical exercise intervention in glycogen storage disease IIIa: Feasibility and multisystem benefits | 2026 | Research article Design not recorded in structured metadata | 3 | cc by PMID 40448669 · DOI · PMC12756873 |
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism.
- Closing excerpt
- The unmet need for treatment strategies that address the cause of disease, restore glucose homeostasis, reduce the risk of hypoglycaemia/secondary metabolic perturbations and improve QoL is also discussed.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (203 words)
Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during fasting and accumulate excess glycogen and fat in the liver and kidney, putting them at risk of severe hypoglycaemia and secondary metabolic perturbations. Good glycaemic/metabolic control through strict dietary treatment and regular doses of uncooked cornstarch (UCCS) is essential for preventing hypoglycaemia and long-term complications. Dietary treatment has improved the prognosis for patients with GSDIa; however, the disease itself, its management and monitoring have significant physical, psychological and psychosocial burden on individuals and parents/caregivers. Hypoglycaemia risk persists if a single dose of UCCS is delayed/missed or in cases of gastrointestinal intolerance. UCCS therapy is imprecise, does not treat the cause of disease, may trigger secondary metabolic manifestations and may not prevent long-term complications. We review the importance of and challenges associated with achieving good glycaemic/metabolic control in individuals with GSDIa and how this should be balanced with age-specific psychosocial development towards independence, management of anxiety and preservation of quality of life (QoL). The unmet need for treatment strategies that address the cause of disease, restore glucose homeostasis, reduce the risk of hypoglycaemia/secondary metabolic perturbations and improve QoL is also discussed.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 34836082 · DOI · PMC8621617
A Comprehensive Update on Late-Onset Pompe Disease [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the GAA gene that lead to a deficiency in the acid alpha-glucosidase enzyme.
- Closing excerpt
- We provide a comprehensive review of diagnostic advances in LOPD and a critical discussion about the advantages and limitations of current and future treatments.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (164 words)
Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the GAA gene that lead to a deficiency in the acid alpha-glucosidase enzyme. Two clinical presentations are usually considered, named infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD), which differ in age of onset, organ involvement, and severity of disease. Assessment of acid alpha-glucosidase activity on a dried blood spot is the first-line screening test, which needs to be confirmed by genetic analysis in case of suspected deficiency. LOPD is a multi-system disease, thus requiring a multidisciplinary approach for efficacious management. Enzyme replacement therapy (ERT), which was introduced over 15 years ago, changes the natural progression of the disease. However, it has limitations, including a reduction in efficacy over time and heterogeneous therapeutic responses among patients. Novel therapeutic approaches, such as gene therapy, are currently under study. We provide a comprehensive review of diagnostic advances in LOPD and a critical discussion about the advantages and limitations of current and future treatments.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 37759679 · DOI · PMC10526932
The Liver and Glycogen: In Sickness and in Health [3]
Abstract reading summary — source excerpts
- Opening excerpt
- The liver is a major store of glycogen and is essential in maintaining systemic glucose homeostasis.
- Closing excerpt
- This review provides an overview of the pathological manifestations and molecular mechanisms of liver diseases associated with abnormal glycogen accumulation.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (109 words)
The liver is a major store of glycogen and is essential in maintaining systemic glucose homeostasis. In healthy individuals, glycogen synthesis and breakdown in the liver are tightly regulated. Abnormal glycogen metabolism results in prominent pathological changes in the liver, often manifesting as hepatic glycogenosis or glycogen inclusions. This can occur in genetic glycogen storage disease or acquired conditions with insulin dysregulation such as diabetes mellitus and non-alcoholic fatty liver disease or medication effects. Some primary hepatic tumors such as clear cell hepatocellular carcinoma also demonstrate excessive glycogen accumulation. This review provides an overview of the pathological manifestations and molecular mechanisms of liver diseases associated with abnormal glycogen accumulation.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 37047105 · DOI · PMC10094386
Physical exercise intervention in glycogen storage disease IIIa: Feasibility and multisystem benefits [4]
Abstract reading summary — source excerpts
- Opening excerpt
- Glycogen storage disease III (GSD-III) is caused by an inherited deficiency of the glycogen debranching enzyme.
- Closing excerpt
- Although more research is needed, the present findings suggest that exercise should be considered in GSD-IIIa management.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (270 words)
Glycogen storage disease III (GSD-III) is caused by an inherited deficiency of the glycogen debranching enzyme. Affecting the liver, muscle and heart, GSD-IIIa is the most common GSD-III subtype. We evaluated the feasibility and safety of a physical exercise intervention in patients with GSD-IIIa and its effects at the multisystem level. Nine patients (four female; five children and four adults; 60% of all diagnosed Spanish patients) participated in a 12 week home-based, remotely supervised programme combining moderate-intensity endurance and resistance exercises. Training tolerance/adaptation (fatigue severity scale, wellbeing questionnaire) and safety were assessed throughout the intervention period. The following outcomes were determined at baseline and postintervention: Health-related quality of life; muscle, liver, kidney and cardiac damage/function biomarkers; dual X-ray absorptiometry-determined fat/muscle/bone mass; echocardiography-determined cardiac dimensions and left ventricular global longitudinal strain; endurance capacity indicators during cardiopulmonary exercise testing; and muscle strength. The patients completed a median of 88% (interquartile range, 87%-100%) of the prescribed sessions. The intervention was safe and well tolerated, with no changes in wellbeing over time and with a decrease in perceived fatigue severity during the intervention (p = 0.002). Barring alanine aminotransferase, there were no changes in blood biomarkers, and the following significant effects were found at postintervention: Decrease in visceral adipose tissue (p = 0.038); healthier cardiac geometry [from concentric to normal remodelling, with decreases in relative (p = 0.015) and posterior (p = 0.042) wall thickness]; and increases in peak oxygen uptake (p = 0.033), peak power output (p = 0.017) and knee-extension isometric strength (p = 0.012). Although more research is needed, the present findings suggest that exercise should be considered in GSD-IIIa management.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 40448669 · DOI · PMC12756873
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Pompe's disease [5]
- Research article Pompe disease diagnosis and management guideline [6]
- Research article Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics [7]
- Research article Glycogen storage disease type III diagnosis and management guidelines [8]
- Research article Glycogen storage diseases: new perspectives [9]
- Research article Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy [10]
References
- Derks TGJ, Rodriguez-Buritica DF, Ahmad A, de Boer F, Couce ML, Grünert SC, et al.. Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs. . 2021. PMID 34836082 · DOI · PMC8621617
- Labella B, Cotti Piccinelli S, Risi B, Caria F, Damioli S, Bertella E, et al.. A Comprehensive Update on Late-Onset Pompe Disease. . 2023. PMID 37759679 · DOI · PMC10526932
- Soon GST, Torbenson M. The Liver and Glycogen: In Sickness and in Health. . 2023. PMID 37047105 · DOI · PMC10094386
- Bustos-Sellers A, Montalvo-Pérez A, Boraita A, Saco-Ledo G, Alejo LB, Barranco-Gil D, et al.. Physical exercise intervention in glycogen storage disease IIIa: Feasibility and multisystem benefits. . 2026. PMID 40448669 · DOI · PMC12756873
- van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet. 2008. PMID 18929906 · DOI
- ACMG Work Group on Management of Pompe Disease, Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, et al.. Pompe disease diagnosis and management guideline. Genet Med. 2006. PMID 16702877 · DOI · PMC3110959
- Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, et al.. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014. PMID 25356975 · DOI
- Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, et al.. Glycogen storage disease type III diagnosis and management guidelines. Genet Med. 2010. PMID 20631546 · DOI
- Ozen H. Glycogen storage diseases: new perspectives. World J Gastroenterol. 2007. PMID 17552001 · DOI · PMC4146814
- Chou JY, Jun HS, Mansfield BC. Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy. Nat Rev Endocrinol. 2010. PMID 20975743 · DOI · PMC4178929
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
See how EvidenceLib is built. Spotted an error? Email support@evidencehelix.com.
Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.