Glycogen storage disease type III epidemiology and demographics

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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

The incidence of glycogen storage disease type 3 (GSD 3) is approximately 1 per 100,000 individuals in the United States of America. 24% Cases of glycogen storage disease are of GSD type 3. In Israel, the prevalence of glycogen storage disease type 3 is approximately 18.5 per 100,000 individuals among North African Jews. Glycogen storage disease type 1 is usually first diagnosed in childhood. Glycogen storage disease type III affects men and women equally. In Faroese population of the Faroe Islands the prevalence of glycogen storage disease type 3a is approximately 32.25 per 100,000 individuals. This highest prevalence of glycogen storage disease type 3a worldwide is due to the founder effect.

Epidemiology and Demographics

Incidence

  • The incidence of glycogen storage disease type 3 (GSD 3) is approximately 1 per 100,000 individuals in the United States of America.[1]
  • 24% cases of glycogen storage disease are of GSD type 3.[2]
  • 80% cases of GSD type 3 are of GSD type 3a.
  • 15% cases of GSD type 3 are of GSD type 3b.
  • GSD type 3c and GSD type 3d are rare.

Prevalence

  • In Israel, the prevalence of glycogen storage disease type 3 is approximately 18.5 per 100,000 individuals among North African Jews.[1]
  • In Israel, the carrier prevalence of glycogen storage disease type 3 is approximately 2857 per 100,000 individuals among North African Jews.[1]
  • In Faroese population of the Faroe Islands the calculated prevalence of glycogen storage disease type 3 is approximately 28 per 100,000 individuals.[3]
  • In Faroese population of the Faroe Islands the prevalence of glycogen storage disease type 3a is approximately 32.25 per 100,000 individuals. This highest prevalence of glycogen storage disease type 3a worldwide is due to the founder effect.[3]

Age

  • Glycogen storage disease type 3 is usually first diagnosed in childhood.[4]

Race

  • Glycogen storage disease type III usually affects individuals of the Faroese population of the Faroe Islands.[3]

Gender

  • Glycogen storage disease type III affects men and women equally. [5]

Region

  • In Faroese population of the Faroe Islands the calculated prevalence of glycogen storage disease type 3 is approximately 28 per 100,000 individuals.[3]
  • In Faroese population of the Faroe Islands the prevalence of glycogen storage disease type 3a is approximately 32.25 per 100,000 individuals. This highest prevalence of glycogen storage disease type 3a worldwide is due to the founder effect.[3]

References

  1. ↑ 1.0 1.1 1.2 Parvari R, Moses S, Shen J, Hershkovitz E, Lerner A, Chen YT (1997). "A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients". Eur J Hum Genet. 5 (5): 266–70. PMID 9412782.
  2. ↑ Ozen H (2007). "Glycogen storage diseases: new perspectives". World J Gastroenterol. 13 (18): 2541–53. PMC 4146814. PMID 17552001.
  3. ↑ 3.0 3.1 3.2 3.3 3.4 Santer R, Kinner M, Steuerwald U, Kjaergaard S, Skovby F, Simonsen H; et al. (2001). "Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands". Eur J Hum Genet. 9 (5): 388–91. doi:10.1038/sj.ejhg.5200632. PMID 11378828.
  4. ↑ Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26372/
  5. ↑ Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26372/

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