Glycogen storage disease type II 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
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".