Biochemical and Clinical Aspects of Glycogen Storage Diseases
Open accessAbstract
The synthesis of glycogen represents a key pathway for the disposal of excess glucose while its degradation is crucial for providing energy during exercise and times of need. The importance of glycogen metabolism is also highlighted by human genetic disorders that are caused by mutations in the enzymes involved. In this review, we provide a basic summary on glycogen metabolism and some of the clinical aspects of the classical glycogen storage diseases. Disruptions in glycogen metabolism usually result in some level of dysfunction in the liver, muscle, heart, kidney and/or brain. Furthermore, the spectrum of symptoms observed is very broad, depending on the affected enzyme. Finally, we briefly discuss an aspect of glycogen metabolism related to the maintenance of its structure that seems to be gaining more recent attention. For example, in Lafora progressive myoclonus epilepsy, patients exhibit an accumulation of inclusion bodies in several tissues, containing glycogen with increased phosphorylation, longer chain lengths and irregular branch points. This abnormal structure is thought to make glycogen insoluble and resistant to degradation. Consequently, its accumulation becomes toxic to neurons, leading to cell death. Although the genes responsible have been identified, studies in the past two decades are only beginning to shed light into their molecular functions.
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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 [12]
The Type III section (page unavailable) says GDE deficiency causes accumulation of abnormal glycogen with short outer chains. It also reports hepatomegaly, hypoglycemia, prominent fasting ketosis, elevated liver enzymes, and intact gluconeogenesis. However, it specifies significantly elevated creatine kinase for GSD type IIIa, not for all forms of GDE deficiency. (LLM, conf=0.86)
Experimental — accuracy not yet measuredGlycogen 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 <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 [12]
The “Classical Glycogen Storage Diseases” section gives an incidence of <1:20,000 and says inheritance is autosomal recessive except for GSD type IX and Danon disease. It describes defects in glycogen synthesis, regulation, or degradation—not solely impaired glycogenolysis—and the “Type 0” section says glycogen storage is usually lacking in that subtype. Page numbers are not available in our copy. (LLM, conf=0.90)
Experimental — accuracy not yet measuredGSD type VI leads to hepatomegaly, fasting ketotic hypoglycemia, and normal creatinine kinase, with preserved gluconeogenesis, and is considered to exhibit a milder disease course compared to other types.
“This accumulation of hepatic glycogen leads to hepatomegaly, fasting ketotic hypoglycemia, but normal creatinine kinase. Like GSD type 0 and type III, gluconeogenesis is preserved, and management is similar. Of note, this form of GSD is considered to exhibit a milder disease course compared to other types.”
From Non-Diabetic Hypoglycemia: Evaluation and Management in Adults (2025) · cites this paper as [12]
The Type VI section reports hepatomegaly, common ketotic hypoglycemia, normal creatine kinase, and a significantly more benign course than GSD type V. It does not explicitly state that gluconeogenesis is preserved or specify fasting as the setting for type VI hypoglycemia. (LLM, conf=0.84)
Experimental — accuracy not yet measuredGSD type Ib is characterized by neutropenia, susceptibility to infections, and inflammatory bowel disease.
“This subtype is further characterized by neutropenia, susceptibility to infections, and inflammatory bowel disease.”
From Non-Diabetic Hypoglycemia: Evaluation and Management in Adults (2025) · cites this paper as [12]
The Type I section (page unavailable) says GSD type Ib patients can exhibit neutrophil dysfunction and an increased risk of inflammatory bowel disease. It does not specifically state neutropenia or increased susceptibility to infections; neutrophil dysfunction alone does not establish either claim. (LLM, conf=0.86)
Experimental — accuracy not yet measuredGSD 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 [12]
The Type 0 section says glycogen storage is usually lacking in GSD type 0 and identifies GYS1 as primarily expressed in cardiac and skeletal muscle and GYS2 as mainly expressed in the liver. It does not give the 0a/0b labels. More importantly, “The biochemistry at a glance” says glycogenin produces the oligosaccharide primer; glycogen synthase extends an existing glucose chain rather than forming the primer. (LLM, conf=0.92)
Experimental — accuracy not yet measured
GSD type 0 is characterized by impaired postprandial glycogen storage, leading to postprandial hyperglycemia but fasting ketotic hypoglycemia, with preserved gluconeogenesis.
“This disease is characterized by impaired postprandial glycogen storage, leading to postprandial hyperglycemia but fasting ketotic hypoglycemia. Gluconeogenesis is preserved.”
From Non-Diabetic Hypoglycemia: Evaluation and Management in Adults (2025) · cites this paper as [12]
The “Type 0: Glycogen Synthase Deficiency” section says that liver GYS2 deficiency prevents postprandial glycogen storage and can cause hyperglycemia; it also identifies fasting ketotic hypoglycemia as a typical feature. It does not say that gluconeogenesis is preserved in GSD type 0. The discussion of impaired gluconeogenesis concerns type I, not type 0. (LLM, conf=0.85)
Experimental — accuracy not yet measuredImpaired glucose production in GSD type Ia leads to fasting hypoglycemia in infants, hepatomegaly, hypertriglyceridemia, lactic acidosis, and hyperuricemia, which may later lead to chronic nephropathy.
“This impaired glucose production leads to fasting hypoglycemia in infants, hepatomegaly, hypertriglyceridemia, lactic acidosis, and hyperuricemia, which may later lead to the development of chronic nephropathy [12].”
From Non-Diabetic Hypoglycemia: Evaluation and Management in Adults (2025) · cites this paper as [12]
GSD type Ib results from deficiency in G6P translocase, which is necessary for G6P transport into the endoplasmic reticulum where the final step of gluconeogenesis occurs.
“GSD Type Ib results from a deficiency in G6P translocase, which is necessary for G6P transport into the endoplasmic reticulum where the final step of gluconeogenesis occurs.”
From Non-Diabetic Hypoglycemia: Evaluation and Management in Adults (2025) · cites this paper as [12]
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 [12]
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 [12]
GSD type Ia is caused by deficiency in glucose-6-phosphatase α, which catalyzes the final common step of glycogenolysis and gluconeogenesis-the conversion of glucose-6-phosphate into glucose.
“Also known as von Gierke disease, GSD Type Ia is caused by a deficiency in glucose-6-phosphatase α , which catalyzes the final common step of glycogenolysis and gluconeogenesis-the conversion of glucose-6-phosphate (G6P) into glucose.”
From Non-Diabetic Hypoglycemia: Evaluation and Management in Adults (2025) · cites this paper as [12]
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Non-Diabetic Hypoglycemia: Evaluation and Management in Adults
Looi, E., & Lawler, H. M. (2025) · Journal of Clinical Medicine · doi:10.3390/jcm14134393 · Cited by 10 · see citing works
“This impaired glucose production leads to fasting hypoglycemia in infants, hepatomegaly, hypertriglyceridemia, lactic acidosis, and hyperuricemia, which may later lead to the development of chronic nephropathy [12].”
- Authors
- Ellingwood, S. S., & Cheng, A.
- Affiliations
- University of Louisville (US)
- Corresponding author
- Cheng, Alan
- Venue
- Journal of Endocrinology
- Publisher
- Bioscientifica
- Published
- 2018-09
- Volume
- 238
- Issue
- 3
- Pages
- R131-R141
- ISSN
- 0022-0795 (ISSN-L)
- 1479-6805
- PMC
- PMC6050127
- OpenAlex
- W2807260714
- Cited by
- 118
- References
- 1
- Citations by year
- 2026: 4 · 2025: 16 · 2024: 22 · 2023: 31 · 2022: 14 · 2021: 10 · 2020: 16 · 2019: 5
- FWCI
- 1.28
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- American Diabetes Association
- National Institutes of Health
- National Institute of Diabetes and Digestive and Kidney Diseases (T35DK072923)
- National Institute of Dental and Craniofacial Research (T35DE007293)
- Topics
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Keywords
- glycogen storage disease, glycogen metabolism, glycogen synthesis, glycogenolysis, glycogen phosphorylation, glycogen branching, enzyme mutations, liver glycogen storage, muscle glycogen storage, glycogen structure
- MeSH terms
- Animals, Inclusion Bodies, Glycogen, Glycogen Storage Disease, Humans, Neurons, Phosphorylation, Disease Progression, Lafora Disease, Neurotoxicity Syndromes
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