Glycogen storage disease type II historical perspective: Difference between revisions
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==Overview== | ==Overview== | ||
In 1932, J.C. Pompe, a Dutch [[pathologist]] described "idiopathic [[hypertrophy of the heart]]" as a post-mortem finding in a 7-month-old girl. This was later confirmed as glycogen storage disease type 2. In 2006, [[enzyme replacement therapy]] (ERT) with recombinant human [[acid alpha-glucosidase]] (rhGAA, alglucosidase alpha) was approved by the [[US Food and Drug Administration]] ([[FDA]]) for patients with infantile-onset GSD type 2. | |||
==Historical Perspective== | ==Historical Perspective== | ||
===Discovery=== | ===Discovery=== | ||
*Glycogen storage disease type 2 is the first storage disease to be described due to [[Lysosomal disorders|lysosome enzyme defect]]. | *Glycogen storage disease type 2 (GSD type 2) is the first storage disease to be described due to [[Lysosomal disorders|lysosome enzyme defect]]. | ||
*In 1932, J.C. Pompe, a Dutch [[pathologist]] described "idiopathic [[hypertrophy of the heart]]" as a post-mortem finding in a 7-month-old girl. This was later confirmed as glycogen storage disease type 2.<ref name="pmid7671937">{{cite journal| author=Fernandes J| title=The history of the glycogen storage diseases. | journal=Eur J Pediatr | year= 1995 | volume= 154 | issue= 6 | pages= 423-4 | pmid=7671937 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7671937 }} </ref> | *In 1932, J.C. Pompe, a Dutch [[pathologist]] described "idiopathic [[hypertrophy of the heart]]" as a post-mortem finding in a 7-month-old girl. This was later confirmed as glycogen storage disease type 2.<ref name="pmid7671937">{{cite journal| author=Fernandes J| title=The history of the glycogen storage diseases. | journal=Eur J Pediatr | year= 1995 | volume= 154 | issue= 6 | pages= 423-4 | pmid=7671937 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7671937 }} </ref> | ||
*In 1954, G.T. Cori classified pompe disease as glycogen storage disease type 2.<ref name="pmid25183957">{{cite journal| author=Lim JA, Li L, Raben N| title=Pompe disease: from pathophysiology to therapy and back again. | journal=Front Aging Neurosci | year= 2014 | volume= 6 | issue= | pages= 177 | pmid=25183957 | doi=10.3389/fnagi.2014.00177 | pmc=4135233 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25183957 }} </ref><ref name="pmid13236242">{{cite journal| author=CORI GT| title=[Enzymes and glycogen structure in glycogenosis]. | journal=Osterr Z Kinderheilkd Kinderfuersorge | year= 1954 | volume= 10 | issue= 1-2 | pages= 38-42 | pmid=13236242 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13236242 }} </ref> | *In 1954, G.T. Cori classified pompe disease as glycogen storage disease type 2.<ref name="pmid25183957">{{cite journal| author=Lim JA, Li L, Raben N| title=Pompe disease: from pathophysiology to therapy and back again. | journal=Front Aging Neurosci | year= 2014 | volume= 6 | issue= | pages= 177 | pmid=25183957 | doi=10.3389/fnagi.2014.00177 | pmc=4135233 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25183957 }} </ref><ref name="pmid13236242">{{cite journal| author=CORI GT| title=[Enzymes and glycogen structure in glycogenosis]. | journal=Osterr Z Kinderheilkd Kinderfuersorge | year= 1954 | volume= 10 | issue= 1-2 | pages= 38-42 | pmid=13236242 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13236242 }} </ref> | ||
*In 1963, H.G. Hers described that GSD type 2 is due to generalized deficiency of [[lysosomal]] enzyme acid α-glucosidase (GAA).<ref name="pmid13954110">{{cite journal| author=HERS HG| title=alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease). | journal=Biochem J | year= 1963 | volume= 86 | issue= | pages= 11-6 | pmid=13954110 | doi= | pmc=1201703 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13954110 }} </ref> | |||
===Lankmark Events in Treatment Strategies=== | |||
*In 2006, [[enzyme replacement therapy]] (ERT) with recombinant human [[acid alpha-glucosidase]] (rhGAA, alglucosidase alpha) was approved by the [[US Food and Drug Administration]] ([[FDA]]) for patients with infantile-onset GSD type 2.<ref name="urlDrugs@FDA: FDA Approved Drug Products">{{cite web |url=https://www.accessdata.fda.gov/scripts/cder/daf/index.cfm?event=BasicSearch.process |title=Drugs@FDA: FDA Approved Drug Products |format= |work= |accessdate=}}</ref> | |||
==References== | ==References== | ||
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[[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 19:46, 23 January 2018
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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
In 1932, J.C. Pompe, a Dutch pathologist described "idiopathic hypertrophy of the heart" as a post-mortem finding in a 7-month-old girl. This was later confirmed as glycogen storage disease type 2. In 2006, enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase (rhGAA, alglucosidase alpha) was approved by the US Food and Drug Administration (FDA) for patients with infantile-onset GSD type 2.
Historical Perspective
Discovery
- Glycogen storage disease type 2 (GSD type 2) is the first storage disease to be described due to lysosome enzyme defect.
- In 1932, J.C. Pompe, a Dutch pathologist described "idiopathic hypertrophy of the heart" as a post-mortem finding in a 7-month-old girl. This was later confirmed as glycogen storage disease type 2.[1]
- In 1954, G.T. Cori classified pompe disease as glycogen storage disease type 2.[2][3]
- In 1963, H.G. Hers described that GSD type 2 is due to generalized deficiency of lysosomal enzyme acid α-glucosidase (GAA).[4]
Lankmark Events in Treatment Strategies
- In 2006, enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase (rhGAA, alglucosidase alpha) was approved by the US Food and Drug Administration (FDA) for patients with infantile-onset GSD type 2.[5]
References
- ↑ Fernandes J (1995). "The history of the glycogen storage diseases". Eur J Pediatr. 154 (6): 423–4. PMID 7671937.
- ↑ Lim JA, Li L, Raben N (2014). "Pompe disease: from pathophysiology to therapy and back again". Front Aging Neurosci. 6: 177. doi:10.3389/fnagi.2014.00177. PMC 4135233. PMID 25183957.
- ↑ CORI GT (1954). "[Enzymes and glycogen structure in glycogenosis]". Osterr Z Kinderheilkd Kinderfuersorge. 10 (1–2): 38–42. PMID 13236242.
- ↑ HERS HG (1963). "alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease)". Biochem J. 86: 11–6. PMC 1201703. PMID 13954110.
- ↑ "Drugs@FDA: FDA Approved Drug Products".