A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells.[1]
GSD has two classes of cause: genetic and environmental. Genetic GSD is caused by any inborn error of carbohydrate metabolism (genetically defective enzymes or transport proteins) involved in these processes. In livestock, environmental GSD is caused by intoxication with the alkaloid castanospermine.[2]
However, not every inborn error of carbohydrate metabolism has been assigned a GSD number, even if it is known to affect the muscles or liver. For example, phosphoglycerate kinase deficiency (gene PGK1) has a myopathic form.
Also, Fanconi-Bickel syndrome (gene SLC2A2) and Danon disease (gene LAMP2) were declassed as GSDs due to being defects of transport proteins rather than enzymes; however, GSD-1 subtypes b, c, and d are due to defects of transport proteins (genes SLC37A4, SLC17A3) yet are still considered GSDs.
Phosphoglucomutase deficiency (gene PGM1) was declassed as a GSD due to it also affecting the formation of N-glycans; however, as it affects both glycogenolysis and glycosylation, it has been suggested that it should re-designated as GSD-XIV.[3]
(See inborn errors of carbohydrate metabolism for a full list of inherited diseases that affect glycogen synthesis, glycogen breakdown, or glucose breakdown.)
^Cantú-Reyna, C.; Santos-Guzmán, J.; Cruz-Camino, H.; Vazquez Cantu, D.L.; Góngora-Cortéz, J.J.; Gutiérrez-Castillo, A. (2019). "Glucose-6-Phosphate dehydrogenase deficiency incidence in a Hispanic population". Journal of Neonatal-Perinatal Medicine. 12 (2): 203–207. doi:10.3233/NPM-1831. PMID 30741698. S2CID 73452760.
^Stegelmeier BL, Molyneux RJ, Elbein AD, James LF (May 1995). "The lesions of locoweed (Astragalus mollissimus), swainsonine, and castanospermine in rats". Veterinary Pathology. 32 (3): 289–98. doi:10.1177/030098589503200311. PMID 7604496. S2CID 45016726.
^Stojkovic, Tanya; Vissing, John; Petit, François; Piraud, Monique; Orngreen, Mette C.; Andersen, Grete; Claeys, Kristl G.; Wary, Claire; Hogrel, Jean-Yves; Laforêt, Pascal (2009-07-23). "Muscle Glycogenosis Due to Phosphoglucomutase 1 Deficiency". New England Journal of Medicine. 361 (4): 425–427. doi:10.1056/NEJMc0901158. ISSN 0028-4793. PMID 19625727.
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