Glycogen storage disease type I historical perspective: Difference between revisions
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==Overview== | ==Overview== | ||
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 | [[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== | ==Historical Perspective== | ||
===Discovery=== | ===Discovery=== | ||
*In 1929, Von Gierke was the first to describe | *In 1929, Von Gierke was the first to describe glycogen storage disease in a 8 year old girl.<ref>{{Cite journal|last=Gierke E|first=Von|date=1929|title=Hepato-nephro-megalia-glycogenica|url=|journal=Beitr Pathol Anat|volume=82|pages=497–513|via=}}</ref> | ||
*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).<ref name="pmid13022673">{{cite journal| author=CORI GT, CORI CF| title=Glucose-6-phosphatase of the liver in glycogen storage disease. | journal=J Biol Chem | year= 1952 | volume= 199 | issue= 2 | pages= 661-7 | pmid=13022673 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13022673 }} </ref> | *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).<ref name="pmid13022673">{{cite journal| author=CORI GT, CORI CF| title=Glucose-6-phosphatase of the liver in glycogen storage disease. | journal=J Biol Chem | year= 1952 | volume= 199 | issue= 2 | pages= 661-7 | pmid=13022673 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13022673 }} </ref> | ||
*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).<ref name="pmid6273650">{{cite journal| author=Igarashi Y, Otomo H, Narisawa K, Tada K| title=A new variant of glycogen storage disease type 1: probably due to a defect in the glucose-6-phosphate transport system. | journal=J Inherit Metab Dis | year= 1980 | volume= 2 | issue= 3 | pages= 45-9 | pmid=6273650 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6273650 }} </ref> | *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).<ref name="pmid6273650">{{cite journal| author=Igarashi Y, Otomo H, Narisawa K, Tada K| title=A new variant of glycogen storage disease type 1: probably due to a defect in the glucose-6-phosphate transport system. | journal=J Inherit Metab Dis | year= 1980 | volume= 2 | issue= 3 | pages= 45-9 | pmid=6273650 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6273650 }} </ref> | ||
*In 1983, Nordlie et al. suggested that T2 deficiency may cause another new variant known as glycogen storage disease type Ic (GSD-1c).<ref name="pmid6309784">{{cite journal| author=Nordlie RC, Sukalski KA, Muñoz JM, Baldwin JJ| title=Type Ic, a novel glycogenosis. Underlying mechanism. | journal=J Biol Chem | year= 1983 | volume= 258 | issue= 16 | pages= 9739-44 | pmid=6309784 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6309784 }} </ref> | *In 1983, Nordlie et al. suggested that T2 deficiency may cause another new variant known as glycogen storage disease type Ic (GSD-1c).<ref name="pmid6309784">{{cite journal| author=Nordlie RC, Sukalski KA, Muñoz JM, Baldwin JJ| title=Type Ic, a novel glycogenosis. Underlying mechanism. | journal=J Biol Chem | year= 1983 | volume= 258 | issue= 16 | pages= 9739-44 | pmid=6309784 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6309784 }} </ref> | ||
*In 1986, Roe et al.were the first to describe inflammatory bowel disease in glycogen storage disease type Ib.<ref name="RoeThomas1986">{{cite journal|last1=Roe|first1=Thomas F.|last2=Thomas|first2=Daniel W.|last3=Gilsanz|first3=Vicente|last4=Isaacs|first4=Hart|last5=Atkinson|first5=James B.|title=Inflammatory bowel disease in glycogen storage disease type Ib|journal=The Journal of Pediatrics|volume=109|issue=1|year=1986|pages=55–59|issn=00223476|doi=10.1016/S0022-3476(86)80572-8}}</ref> | *In 1986, Roe et al. were the first to describe [[inflammatory bowel disease]] in glycogen storage disease type Ib.<ref name="RoeThomas1986">{{cite journal|last1=Roe|first1=Thomas F.|last2=Thomas|first2=Daniel W.|last3=Gilsanz|first3=Vicente|last4=Isaacs|first4=Hart|last5=Atkinson|first5=James B.|title=Inflammatory bowel disease in glycogen storage disease type Ib|journal=The Journal of Pediatrics|volume=109|issue=1|year=1986|pages=55–59|issn=00223476|doi=10.1016/S0022-3476(86)80572-8}}</ref> | ||
*In 1993, Brody et al. located the gene encoding the catalytic unit of the glucose-6-phosphatase complex on chromosome 17q21.<ref name="pmid7774924">{{cite journal| author=Brody LC, Abel KJ, Castilla LH, Couch FJ, McKinley DR, Yin G et al.| title=Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17. | journal=Genomics | year= 1995 | volume= 25 | issue= 1 | pages= 238-47 | pmid=7774924 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7774924 }} </ref> | *In 1993, Brody et al. located the gene encoding the catalytic unit of the [[Glucose-6-phosphatase|glucose-6-phosphatase complex]] on [[chromosome]] 17q21.<ref name="pmid7774924">{{cite journal| author=Brody LC, Abel KJ, Castilla LH, Couch FJ, McKinley DR, Yin G et al.| title=Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17. | journal=Genomics | year= 1995 | volume= 25 | issue= 1 | pages= 238-47 | pmid=7774924 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7774924 }} </ref> | ||
*In the same year, Lei et al. identified the mutations causing glycogen storage disease type 1a by cloning human glucose-6-phosphatase gene.<ref name="pmid7573034">{{cite journal| author=Lei KJ, Chen YT, Chen H, Wong LJ, Liu JL, McConkie-Rosell A et al.| title=Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. | journal=Am J Hum Genet | year= 1995 | volume= 57 | issue= 4 | pages= 766-71 | pmid=7573034 | doi= | pmc=1801521 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7573034 }} </ref> | *In the same year, Lei et al. identified the [[mutations]] causing glycogen storage disease type 1a by cloning human [[glucose-6-phosphatase]] gene.<ref name="pmid7573034">{{cite journal| author=Lei KJ, Chen YT, Chen H, Wong LJ, Liu JL, McConkie-Rosell A et al.| title=Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. | journal=Am J Hum Genet | year= 1995 | volume= 57 | issue= 4 | pages= 766-71 | pmid=7573034 | doi= | pmc=1801521 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7573034 }} </ref> | ||
*In 1998, Annabi et al. located the gene responsible for glycogen storage disease type Ib through linkage analysis to chromosome 11q23.<ref name="pmid9463334">{{cite journal| author=Annabi B, Hiraiwa H, Mansfield BC, Lei KJ, Ubagai T, Polymeropoulos MH et al.| title=The gene for glycogen-storage disease type 1b maps to chromosome 11q23. | journal=Am J Hum Genet | year= 1998 | volume= 62 | issue= 2 | pages= 400-5 | pmid=9463334 | doi=10.1086/301727 | pmc=1376902 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9463334 }} </ref> | *In 1998, Annabi et al. located the gene responsible for glycogen storage disease type Ib through linkage analysis to [[chromosome]] 11q23.<ref name="pmid9463334">{{cite journal| author=Annabi B, Hiraiwa H, Mansfield BC, Lei KJ, Ubagai T, Polymeropoulos MH et al.| title=The gene for glycogen-storage disease type 1b maps to chromosome 11q23. | journal=Am J Hum Genet | year= 1998 | volume= 62 | issue= 2 | pages= 400-5 | pmid=9463334 | doi=10.1086/301727 | pmc=1376902 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9463334 }} </ref> | ||
===Landmark Events in the Development of Treatment Strategies=== | ===Landmark Events in the Development of Treatment Strategies=== | ||
*In 1982, the first liver transplantation for GSD type 1 was performed.<ref name="pmid6133106">{{cite journal| author=Malatack JJ, Finegold DN, Iwatsuki S, Shaw BW, Gartner JC, Zitelli BJ et al.| title=Liver transplantation for type I glycogen storage disease. | journal=Lancet | year= 1983 | volume= 1 | issue= 8333 | pages= 1073-5 | pmid=6133106 | doi= | pmc=3022514 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6133106 }} </ref> | *In 1982, the first [[liver transplantation]] for GSD type 1 was performed.<ref name="pmid6133106">{{cite journal| author=Malatack JJ, Finegold DN, Iwatsuki S, Shaw BW, Gartner JC, Zitelli BJ et al.| title=Liver transplantation for type I glycogen storage disease. | journal=Lancet | year= 1983 | volume= 1 | issue= 8333 | pages= 1073-5 | pmid=6133106 | doi= | pmc=3022514 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6133106 }} </ref> | ||
===Impact on Cultural History=== | ===Impact on Cultural History=== | ||
*Glucose-6-phosphatase deficiency in GSD-1 is identified as first specific enzymopathy in a hereditary disorder.<ref name="pmid17552001">{{cite journal| author=Ozen H| title=Glycogen storage diseases: new perspectives. | journal=World J Gastroenterol | year= 2007 | volume= 13 | issue= 18 | pages= 2541-53 | pmid=17552001 | doi= | pmc=4146814 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17552001 }} </ref> | *[[Glucose-6-phosphatase deficiency]] in GSD-1 is identified as first specific [[enzymopathy]] in a [[hereditary disorder]].<ref name="pmid17552001">{{cite journal| author=Ozen H| title=Glycogen storage diseases: new perspectives. | journal=World J Gastroenterol | year= 2007 | volume= 13 | issue= 18 | pages= 2541-53 | pmid=17552001 | doi= | pmc=4146814 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17552001 }} </ref> | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Hepatology]] | [[Category:Hepatology]] | ||
[[Category:Gastroenterology]] | |||
[[Category:Pediatrics]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] | |||
{{WS}} | {{WS}} | ||
{{WH}} | {{WH}} | ||
Latest revision as of 14:23, 13 December 2017
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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.