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Cited by 200Glycogen Storage Diseases and MyoclonusMetabolism and Genetic DisordersMetabolism, Diabetes, and Cancer

Glycogen Metabolism and Glycogen Storage Disorders

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Kanungo, Shibani, Wells, Kimberly, Tribett, Taylor, El-Gharbawy, Areeg·2018·Annals of Translational Medicine
DOI 10.21037/atm.2018.10.59PMC PMC6331362
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Abstract

Glucose is the main energy fuel for the human brain. Maintenance of glucose homeostasis is therefore, crucial to meet cellular energy demands in both - normal physiological states and during stress or increased demands. Glucose is stored as glycogen primarily in the liver and skeletal muscle with a small amount stored in the brain. Liver glycogen primarily maintains blood glucose levels, while skeletal muscle glycogen is utilized during high-intensity exertion, and brain glycogen is an emergency cerebral energy source. Glycogen and glucose transform into one another through glycogen synthesis and degradation pathways. Thus, enzymatic defects along these pathways are associated with altered glucose metabolism and breakdown leading to hypoglycemia ± hepatomegaly and or liver disease in hepatic forms of glycogen storage disorder (GSD) and skeletal ± cardiac myopathy, depending on the site of the enzyme defects. Overall, defects in glycogen metabolism mainly present as GSDs and are a heterogenous group of inborn errors of carbohydrate metabolism. In this article we review the genetics, epidemiology, clinical and metabolic findings of various types of GSD, and glycolysis defects emphasizing current treatment and implications for future directions.

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  • GSD type 0 is caused by a lack of hepatic glycogen due to deficiency in glycogen synthase 1 (type 0a) or glycogen synthase 2 (type 0b), which catalyzes formation of an oligosaccharide primer essential for glycogen synthesis in the liver.

    “Unlike other types of GSDs, GSD type 0 is caused by a lack of-rather than accumulation of-hepatic glycogen. This disorder is caused by either a deficiency in glycogen synthase 1 (enzymatic isoform in cardiac and skeletal muscle; GSD type 0a) or a deficiency in glycogen synthase 2 (GSD type 0b), which catalyzes the formation of an oligosaccharide primer essential for glycogen synthesis in the liver”

    From Non-Diabetic Hypoglycemia: Evaluation and Management in Adults (2025) · cites this paper as [35]

    The Clinical section supports depleted hepatic glycogen in GSD0a, but the paper’s GSD table assigns GYS2 to liver GSD0a and GYS1 to muscle GSD0b—the reverse of the claim. The Introduction also says glycogenin initiates the glucose primer, while glycogen synthase adds glucose to that core. The indexed passages provide no page numbers. (LLM, conf=0.90)

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  • GDE deficiency results in accumulation of abnormal glycogen molecules and leads to hepatomegaly, fasting ketotic hypoglycemia, and significantly elevated hepatic transaminases and creatinine kinase, with preserved gluconeogenesis.

    “GDE deficiency results in accumulation of abnormal glycogen molecules and leads to hepatomegaly, fasting ketotic hypoglycemia, and significantly elevated hepatic transaminases and creatinine kinase. Like GSD type 0, gluconeogenesis is preserved.”

    From Non-Diabetic Hypoglycemia: Evaluation and Management in Adults (2025) · cites this paper as [35]

    The GSD type 3 Clinical and Metabolic findings and diagnosis sections describe GDE deficiency, abnormal glycogen accumulation, hepatomegaly, fasting hypoglycemia with ketosis, elevated liver enzymes, and elevated CK. The paper discusses promoting gluconeogenesis in GSD0a, but does not explicitly establish that gluconeogenesis is preserved in GSD3. Page numbers were not available in our copy. (LLM, conf=0.86)

    Experimental — accuracy not yet measured

  • GSD type III is caused by deficiency in hepatic glycogen debranching enzyme, which is required to hydrolyze α(1→6) glycosidic bonds at glycogen branch points, a step necessary for glycogen phosphorylase to complete glycogen breakdown.

    “Also known as Cori or Forbes disease, GSD Type III is caused by a deficiency in hepatic glycogen debranching enzyme (GDE), which is required to hydrolyze the α (1 → 6) glycosidic bonds present at glycogen branch points. This step is necessary for glycogen phosphorylase to complete glycogen breakdown.”

    From Non-Diabetic Hypoglycemia: Evaluation and Management in Adults (2025) · cites this paper as [35]

    The GSD type 3 section identifies Cori or Forbes disease as resulting from glycogen debranching enzyme deficiency and says glycogen breakdown is impaired. The enzyme table calls it an amylo-1,6-glucosidase, but the copy does not state that hydrolysis of branch-point bonds is necessary for glycogen phosphorylase to complete breakdown. (LLM, conf=0.84)

    Experimental — accuracy not yet measured

  • GSD type VI is caused by deficiency in hepatic glycogen phosphorylase, the principal enzyme in glycogenolysis that produces glucose-1-phosphate, which is subsequently converted to G6P and then into glucose.

    “Also known as Hers' disease, GSD Type VI is caused by a deficiency in hepatic glycogen phosphorylase, the principal enzyme in glycogenolysis that produces glucose1-phosphate, which subsequently is converted to G6P and then into glucose.”

    From Non-Diabetic Hypoglycemia: Evaluation and Management in Adults (2025) · cites this paper as [35]

    The GSD type 6 section identifies Hers disease as a liver phosphorylase defect and says the enzyme forms glucose-1-phosphate from glycogen. The Introduction names phosphorylase among the enzymes involved in glycogen degradation, and the GSD1a Clinical section describes conversion of G6P to free glucose. Our copy does not explicitly call phosphorylase the principal enzyme or state the intermediate conversion from glucose-1-phosphate to G6P. (LLM, conf=0.82)

    Experimental — accuracy not yet measured

  • Glycogen storage diseases have an incidence of <1 in 20,000, are mostly inherited in an autosomal recessive manner, and are characterized by impaired glycogenolysis resulting in glycogen accumulation.

    “Glycogen storage diseases (GSD) have an incidence of &lt;1 in 20,000). Most are inherited in an autosomal recessive manner and are characterized by impaired glycogenolysis resulting in the glycogen accumulation [12,35,36].”

    From Non-Diabetic Hypoglycemia: Evaluation and Management in Adults (2025) · cites this paper as [35]

    The Genetics and epidemiology section describes several GSD types as autosomal recessive, supporting the inheritance statement. It gives 1 in 20,000 only as the suggested incidence of GSD1a in the Ashkenazi Jewish population, not as an overall incidence for GSDs. The Clinical section also describes GSD0a as causing a lack of hepatic glycogen storage, so impaired glycogenolysis with glycogen accumulation does not characterize every GSD. (LLM, conf=0.88)

    Experimental — accuracy not yet measured

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Authors
Kanungo, S., Wells, K., Tribett, T., & El-Gharbawy, A.
Affiliations
Western Michigan University (US)
Corresponding author
Kanungo, Shibani
ORCID
Venue
Annals of Translational Medicine
Publisher
AME Publishing Company
Published
2018-12
Volume
6
Issue
24
Pages
474-474
ISSN
  • 2305-5839 (ISSN-L)
  • 2305-5847
DOI
10.21037/atm.2018.10.59
PMC
PMC6331362
OpenAlex
W2899521955
Cited by
200
References
0
Citations by year
2026: 22 · 2025: 29 · 2024: 25 · 2023: 28 · 2022: 35 · 2021: 21 · 2020: 27 · 2019: 13
FWCI
2.53
Type
journal article
Language
en
Open access
Licence
cc-by-nc-nd
Locations
  • Annals of Translational Medicine (publishedVersion, cc-by-nc-nd)
  • Europe PMC (PubMed Central) (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Metabolism, Diabetes, and Cancer
Keywords
glycogen metabolism, glycogen storage disease, glucose homeostasis, glycogen synthesis, glycogenolysis, inborn errors of carbohydrate metabolism, skeletal muscle glycogen, brain glycogen, hypoglycemia, hepatomegaly, skeletal myopathy, cardiomyopathy, treatment

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