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hepatic glycogenosis

Sunday 25 April 2004

GSDs, hepatic glycogen storage diseases

Definition: Glycogenoses are a number of genetic syndromes have been identified that result from some metabolic defect in the synthesis or catabolism of glycogen. The best understood and most important glycogenoses includes the glycogen storage diseases (GSDs), resulting from a hereditary deficiency of one of the enzymes involved in the synthesis or sequential degradation of glycogen.

Depending on the tissue or organ distribution of the specific enzyme in the normal state, glycogen storage in these dis-orders may be limited to a few tissues, may be more wide-spread while not affecting all tissues, or may be systemic in distribution.


- glycogen storage disease type I (GSD1)
- glycogen storage disease type II (GSD2)
- glycogen storage disease type III (GSD3)
- glycogen storage disease type IV (GSD4)
- glycogen storage disease type V (GSD5)
- glycogen storage disease type VI (GSD6)
- glycogen storage disease type VII (GSD7)


- Gogus S, Kocak N, Ciliv G, Karabulut E, Akcoren Z, Kale G, Caglar M. Histologic features of the liver in type Ia glycogen storage disease: comparative study between different age groups and consecutive biopsies. Pediatr Dev Pathol. 2002 May-Jun;5(3):299-304. PMID: 12007023

- Jevon GP, Finegold MJ. Reliability of histological criteria in glycogen storage disease of the liver. Pediatr Pathol. 1994 Jul-Aug;14(4):709-21. PMID: 7971588

- Jevon GP, Dimmick JE. Histopathologic approach to metabolic liver disease: Part 1. Pediatr Dev Pathol. 1998 May-Jun;1(3):179-99. PMID: 10463278