Glycogen storage disease type I 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
Glucose-6-phosphatase is an enzyme located on the inner membrane of the endoplasmic reticulum. The catalytic unit consist of calcium binding protein and three transport proteins (T1, T2, and T3). The movement of glucose-6-phosphate, phosphate, and glucose into and out of the enzyme is facilitated by T1, T2, and T3 respectively. Glycogen storage disease type 1 (GSD1) is divided on the basis of defect/deficiency of either enzyme or transporter into four types including glycogen storage disease type 1a, type 1b, type 1c, and 1d.
Classification
Glucose-6-phosphatase is an enzyme located on the inner membrane of the endoplasmic reticulum. The catalytic unit consist of calcium binding protein and three transport proteins (T1, T2, and T3). The movement of glucose-6-phosphate, phosphate, and glucose into and out of the enzyme is facilitated by T1, T2, and T3 respectively.[1]
Glycogen storage disease type 1 (GSD1) is divided on the basis of defect/deficiency of either enzyme or transporter into four types:[2][3][4]
| Type of GDS 1 | Type of defect | Molecular mechanism |
|---|---|---|
| Glycogen storage disease type 1a | Enzyme deficiency | Deficiency of glucose-6-phosphatase |
| Glycogen storage disease type 1b | Glucose-6-phosphate translocase deficiency (T1 deficiency) | Deficiency of liver microsomal transport of glucose-6-phosphate |
| Glycogen storage disease type 1c | Phosphate/pyrophosphate translocase deficiency (T2 deficiency) | Deficiency of liver microsomal transport of phosphate |
| Glycogen storage disease type 1d | Glucose deficiency translocase (T3 deficiency) | Deficiency of liver microsomal transport of glucose |
References
- ↑ Monga, Satdarshan (2011). Molecular pathology of liver diseases. New York: Springer. ISBN 1441971068.
- ↑ Ozen H (2007). "Glycogen storage diseases: new perspectives". World J Gastroenterol. 13 (18): 2541–53. PMC 4146814. PMID 17552001.
- ↑ Moses SW (2002). "Historical highlights and unsolved problems in glycogen storage disease type 1". Eur J Pediatr. 161 Suppl 1: S2–9. doi:10.1007/s00431-002-0997-6. PMID 12373565.
- ↑ Mansfield BC (1999). "Molecular Genetics of Type 1 Glycogen Storage Diseases". Trends Endocrinol Metab. 10 (3): 104–113. PMID 10322403.