Glycogen storage disease type III classification
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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]
Overview
Glycogen storage disease type III may be classified according to the site and/or types of enzyme-deficient into 4 sub-types including glycogen storage disease type 3a, type 3b, type 3c, and type 3d.
Classification
Glycogen storage disease type III may be classified according to the site and/or types of enzyme-deficient into 4 subtypes:[1][2][3]
| Type of GDS 3 | Type of defect | Molecular mechanism |
|---|---|---|
| Glycogen storage disease type 3a | Enzyme deficiency in both liver and muscle | Both glycogen debranching enzymes (GDE) deficiency |
| Glycogen storage disease type 3b | Enzyme deficient in liver only | Both glycogen debranching enzymes (GDE) deficiency |
| Glycogen storage disease type 3c | Isolate enzyme deficiency | Isolated glucosidase deficiency with retention of transferase activity |
| Glycogen storage disease type 3d | Isolate enzyme deficiency | Isolated transferase deficiency with retention of glucosidase activity |
References
- ↑ 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.
- ↑ Ding JH, de Barsy T, Brown BI, Coleman RA, Chen YT (1990). "Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III". J Pediatr. 116 (1): 95–100. PMID 2295969.
- ↑ 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.