Glycogen storage disease type III: a mixed-methods study to assess the burden of disease
- PMID: 38196773
- PMCID: PMC10775738
- DOI: 10.1177/20420188231224233
Glycogen storage disease type III: a mixed-methods study to assess the burden of disease
Abstract
Background: Glycogen storage disease type III (GSD III) is a rare inherited disorder that results from a glycogen debranching enzyme deficiency.
Objectives: The purpose of this research was to collect data on the signs, symptoms, and impacts of GSD III from the perspective of adult patients and caregivers of individuals with GSD III.
Design: Online survey and qualitative interviews.
Methods: Following institutional review board approval, adult patients and caregivers of children with GSD III were recruited through advocacy networks and clinical sites. If eligible, participants were consented, screened, and sent a survey and/or participated in a 60-min interview. The survey and interview included questions about family history, diagnosis, signs and symptoms, impacts, and management of GSD III. Conceptual models were developed following the analysis of results.
Results: In all, 29 adults and 46 caregivers completed the online survey and/or the interviews with 73 survey and 19 interview respondents. Adults and caregivers reported digestive, musculoskeletal, growth and physical appearance, and cardiac signs and symptoms. Liver conditions were reported by most respondents (83%). Adults and caregivers frequently reported impacts such as difficulty keeping up with peers (77%) and difficulty exercising/difficulty with physical activity (53%). Hypoglycemia was frequently reported in both adults and children, with more than half reporting hospitalizations due to hypoglycemia. Caregivers focused on hypoglycemia when reporting signs/symptoms that most interfere with their child's life and prevention of hypoglycemia as a desired outcome for an effective therapy. Adults most often reported muscle weakness as a top interfering symptom and the most important goal of a potential therapy. Impacts were also reported in activities of daily living, cognitive, emotional, work/school, and sleep domains.
Conclusion: Individuals with GSD III experience a broad spectrum of symptoms and disease impacts. There is an unmet need for therapies that improve metabolic control, reduce the burden of dietary management, reduce fatigue and liver problems, and improve muscle strength and function.
Keywords: conceptual model; glycogen storage disease type III; mixed methods; qualitative research; rare disease.
© The Author(s), 2024.
Figures
Similar articles
-
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.Mol Genet Metab Rep. 2021 Nov 11;29:100821. doi: 10.1016/j.ymgmr.2021.100821. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34820282 Free PMC article.
-
Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature.Mol Genet Metab. 2021 Nov;134(3):223-234. doi: 10.1016/j.ymgme.2021.10.002. Epub 2021 Oct 9. Mol Genet Metab. 2021. PMID: 34649782 Free PMC article. Review.
-
[Diagnosis of glycogen storage disease type IIIA by detecting glycogen debranching enzyme activity, glycogen content and structure in muscle].Zhonghua Er Ke Za Zhi. 2009 Aug;47(8):608-12. Zhonghua Er Ke Za Zhi. 2009. PMID: 19951495 Chinese.
-
Impact of glycogen storage disease type I on adult daily life: a survey.Orphanet J Rare Dis. 2021 Sep 3;16(1):371. doi: 10.1186/s13023-021-02006-w. Orphanet J Rare Dis. 2021. PMID: 34479584 Free PMC article.
-
Nutrition therapy for hepatic glycogen storage diseases.J Am Diet Assoc. 1993 Dec;93(12):1423-30. doi: 10.1016/0002-8223(93)92246-t. J Am Diet Assoc. 1993. PMID: 8245377 Review.
Cited by
-
Cardiovascular involvement in glycogen storage diseases.Nat Rev Cardiol. 2025 Jun 5. doi: 10.1038/s41569-025-01171-w. Online ahead of print. Nat Rev Cardiol. 2025. PMID: 40473899 Review.
-
Galectin-3: a novel biomarker of glycogen storage disease type III.Cell Death Discov. 2025 Apr 14;11(1):173. doi: 10.1038/s41420-025-02452-6. Cell Death Discov. 2025. PMID: 40229243 Free PMC article.
References
-
- Derks TGJ, Smit GPA. Dietary management in glycogen storage disease type III: what is the evidence? J Inherit Metab Dis 2015; 38: 545–550. - PubMed
-
- Endo Y, Horinishi A, Vorgerd M, et al. Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey. J Hum Genet 2006; 51: 958–963. - PubMed
-
- Parvaria R, Mosesb S, Shen J, et al. A single-base deletion in the 3′-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients. Eur J Hum Genet 1997; 5: 266–270. - PubMed
-
- Chen MA, Weinstein DA. Glycogen storage diseases: diagnosis, treatment and outcome. Transl Sci Rare Dis 2016; 1: 45–72.
LinkOut - more resources
Full Text Sources