Glycogen storage disease type I historical perspective
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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 deficiency in glycogen storage disease (GSD 1) is identified as first specific enzymopathy in a hereditary disorder. In 1952, Gerty T. Cori and Carl F. Cori were the first to discover the association between deficiency of glucose-6-phosphatase and glycogen storage disease type I (GSD 1). In 1952, Gerty, T. Cori, and Carl F. Cori were the first to discover the association between deficiency of glucose-6-phosphatase and glycogen storage disease type Ia (GSD-1a). In 1978, Narisawa et al. suggested that a defect in the microsomal transport system of glucose-6-phosphate (T1 deficiency) may cause a new variant known as glycogen storage disease type Ib (GSD-1b). In 1982, the first liver transplantation for GSD type 1 was performed.
Historical Perspective
Discovery
- In 1929, Von Gierke was the first to describe glycogen storage disease in a 8 year old girl.[1]
- In 1952, Gerty T. Cori and Carl F. Cori were the first to discover the association between deficiency of glucose-6-phosphatase and glycogen storage disease type Ia (GSD-1a).[2]
- In 1978, Narisawa et al. suggested that a defect in microsomal transport system of glucose-6-phosphate (T1 deficiency) may cause a new variant known as glycogen storage disease type Ib (GSD-1b).[3]
- In 1983, Nordlie et al. suggested that T2 deficiency may cause another new variant known as glycogen storage disease type Ic (GSD-1c).[4]
- In 1986, Roe et al. were the first to describe inflammatory bowel disease in glycogen storage disease type Ib.[5]
- In 1993, Brody et al. located the gene encoding the catalytic unit of the glucose-6-phosphatase complex on chromosome 17q21.[6]
- In the same year, Lei et al. identified the mutations causing glycogen storage disease type 1a by cloning human glucose-6-phosphatase gene.[7]
- In 1998, Annabi et al. located the gene responsible for glycogen storage disease type Ib through linkage analysis to chromosome 11q23.[8]
Landmark Events in the Development of Treatment Strategies
- In 1982, the first liver transplantation for GSD type 1 was performed.[9]
Impact on Cultural History
- Glucose-6-phosphatase deficiency in GSD-1 is identified as first specific enzymopathy in a hereditary disorder.[10]
References
- ↑ Gierke E, Von (1929). "Hepato-nephro-megalia-glycogenica". Beitr Pathol Anat. 82: 497–513.
- ↑ CORI GT, CORI CF (1952). "Glucose-6-phosphatase of the liver in glycogen storage disease". J Biol Chem. 199 (2): 661–7. PMID 13022673.
- ↑ Igarashi Y, Otomo H, Narisawa K, Tada K (1980). "A new variant of glycogen storage disease type 1: probably due to a defect in the glucose-6-phosphate transport system". J Inherit Metab Dis. 2 (3): 45–9. PMID 6273650.
- ↑ Nordlie RC, Sukalski KA, Muñoz JM, Baldwin JJ (1983). "Type Ic, a novel glycogenosis. Underlying mechanism". J Biol Chem. 258 (16): 9739–44. PMID 6309784.
- ↑ Roe, Thomas F.; Thomas, Daniel W.; Gilsanz, Vicente; Isaacs, Hart; Atkinson, James B. (1986). "Inflammatory bowel disease in glycogen storage disease type Ib". The Journal of Pediatrics. 109 (1): 55–59. doi:10.1016/S0022-3476(86)80572-8. ISSN 0022-3476.
- ↑ Brody LC, Abel KJ, Castilla LH, Couch FJ, McKinley DR, Yin G; et al. (1995). "Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17". Genomics. 25 (1): 238–47. PMID 7774924.
- ↑ Lei KJ, Chen YT, Chen H, Wong LJ, Liu JL, McConkie-Rosell A; et al. (1995). "Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus". Am J Hum Genet. 57 (4): 766–71. PMC 1801521. PMID 7573034.
- ↑ Annabi B, Hiraiwa H, Mansfield BC, Lei KJ, Ubagai T, Polymeropoulos MH; et al. (1998). "The gene for glycogen-storage disease type 1b maps to chromosome 11q23". Am J Hum Genet. 62 (2): 400–5. doi:10.1086/301727. PMC 1376902. PMID 9463334.
- ↑ Malatack JJ, Finegold DN, Iwatsuki S, Shaw BW, Gartner JC, Zitelli BJ; et al. (1983). "Liver transplantation for type I glycogen storage disease". Lancet. 1 (8333): 1073–5. PMC 3022514. PMID 6133106.
- ↑ Ozen H (2007). "Glycogen storage diseases: new perspectives". World J Gastroenterol. 13 (18): 2541–53. PMC 4146814. PMID 17552001.