Glycogen storage disease type III pathophysiology

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]


Glycogen storage disease type 3 (GSD 3) results due to deficiency of glycogen debrancher enzyme. Glycogen debrancher enzyme is present in the liver and muscle. Glycogen debrancher enzyme catalyzes the conversion of phosphorylase limit dextrin into glucose-6-phosphate during glycogenolysis. This defect hinders this conversion. The inability of glucose to leave cells leads to fasting hypoglycemia. Impairment of glycogenolysis leads to the accumulation of fat and glycogen deposition resulting in characteristic hepatomegaly. Hepatomegaly is more pronounced when the child is young and decreases as the age progresses. The hepatomegaly leads to protrusion of the abdomen. Myopathy is usually present and becomes more pronounced as age progress. AGL gene mutation is responsible for glycogen debrancher enzyme deficiency in GSD type 3 and is located on chromosome locus 1p21. GSD type 3 follows an autosomal recessive pattern.


Mechanism of hypoglycemia

Metabolic Pathway

Metabolic pathways showing defects in glycogen storage disease type III, (ɔ) Image courtesy of, by "Dr. Anmol Pitliya"

Hepatomegaly and liver disorders



Associated Conditions

Gross Pathology

  • On gross pathology analysis, the features of glycogen storage disease type 1 include hepatomegaly. Hepatomegaly decreases as age increases.[12]

Microscopic Pathology

On microscopic histopathological analysis, the features of glycogen storage disease type 1 include:


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  6. Siciliano M, De Candia E, Ballarin S, Vecchio FM, Servidei S, Annese R; et al. (2000). "Hepatocellular carcinoma complicating liver cirrhosis in type IIIa glycogen storage disease". J Clin Gastroenterol. 31 (1): 80–2. PMID 10914784.
  7. Cosme A, Montalvo I, Sánchez J, Ojeda E, Torrado J, Zapata E; et al. (2005). "[Type III glycogen storage disease associated with hepatocellular carcinoma]". Gastroenterol Hepatol. 28 (10): 622–5. PMID 16373012.
  8. Kiechl S, Kohlendorfer U, Thaler C, Skladal D, Jaksch M, Obermaier-Kusser B; et al. (1999). "Different clinical aspects of debrancher deficiency myopathy". J Neurol Neurosurg Psychiatry. 67 (3): 364–8. PMC 1736538. PMID 10449560.
  9. Shen J, Bao Y, Liu HM, Lee P, Leonard JV, Chen YT (1996). "Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle". J Clin Invest. 98 (2): 352–7. doi:10.1172/JCI118799. PMC 507437. PMID 8755644.
  10. Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T; et al. (2009). "Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations". J Hum Genet. 54 (11): 681–6. doi:10.1038/jhg.2009.100. PMID 19834502.
  11. Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from:
  12. 12.0 12.1 Kishnani, Priya S; Austin, Stephanie L; Arn, Pamela; Bali, Deeksha S; Boney, Anne; Case, Laura E; Chung, Wendy K; Desai, Dev M; El-Gharbawy, Areeg; Haller, Ronald; Smit, G Peter A; Smith, Alastair D; Hobson-Webb, Lisa D; Wechsler, Stephanie Burns; Weinstein, David A; Watson, Michael S (2010). "Glycogen Storage Disease Type III diagnosis and management guidelines". Genetics in Medicine. 12 (7): 446–463. doi:10.1097/GIM.0b013e3181e655b6. ISSN 1098-3600.
  13. McAdams AJ, Hug G, Bove KE (1974). "Glycogen storage disease, types I to X: criteria for morphologic diagnosis". Hum Pathol. 5 (4): 463–87. PMID 4525190.
  14. Olson LJ, Reeder GS, Noller KL, Edwards WD, Howell RR, Michels VV (1984). "Cardiac involvement in glycogen storage disease III: morphologic and biochemical characterization with endomyocardial biopsy". Am J Cardiol. 53 (7): 980–1. PMID 6584026.

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