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{{Glycogen storage disease type I}}
{{Glycogen storage disease type I}}
{{CMG}}; {{AE}}
{{CMG}}; {{AE}} {{Anmol}}


==Overview==
==Overview==
The [[incidence]] of glycogen storage disease type 1 (GSD 1) is approximately 1 per 100,000 individuals worldwide. The [[prevalence]] of glycogen storage disease type 1 is approximately 5 per 100,000 individuals in Ashkenazi Jewish population. Glycogen storage disease type 1 is usually first diagnosed among [[infants]].


==Epidemiology and Demographics==
==Epidemiology and Demographics==
===Incidence===
===Incidence===
*The incidence of glycogen storage disease type 1 is approximately 1 per 100,000 individuals worldwide.<ref name="pmid10322403">{{cite journal| author=Mansfield BC| title=Molecular Genetics of Type 1 Glycogen Storage Diseases. | journal=Trends Endocrinol Metab | year= 1999 | volume= 10 | issue= 3 | pages= 104-113 | pmid=10322403 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10322403  }} </ref><ref name="urlglycogen storage disease type I - Genetics Home Reference">{{cite web |url=https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i#statistics |title=glycogen storage disease type I - Genetics Home Reference |format= |work= |accessdate=}}</ref>
*The [[incidence]] of glycogen storage disease type 1 (GSD 1) is approximately 1 per 100,000 individuals worldwide.<ref name="pmid10322403">{{cite journal| author=Mansfield BC| title=Molecular Genetics of Type 1 Glycogen Storage Diseases. | journal=Trends Endocrinol Metab | year= 1999 | volume= 10 | issue= 3 | pages= 104-113 | pmid=10322403 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10322403  }} </ref><ref name="urlglycogen storage disease type I - Genetics Home Reference">{{cite web |url=https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i#statistics |title=glycogen storage disease type I - Genetics Home Reference |format= |work= |accessdate=}}</ref>
*80% Cases of GSD 1 are of GSD type 1a.
*Around 80% Cases of GSD 1 are of GSD type 1a.


===Prevalence===
===Prevalence===
*The prevalence of Glycogen storage disease type I is approximately 5 per 100,000 individuals in Ashkenazi Jewish population.<ref name="KishnaniAustin2014">{{cite journal|last1=Kishnani|first1=Priya S.|last2=Austin|first2=Stephanie L.|last3=Abdenur|first3=Jose E.|last4=Arn|first4=Pamela|last5=Bali|first5=Deeksha S.|last6=Boney|first6=Anne|last7=Chung|first7=Wendy K.|last8=Dagli|first8=Aditi I.|last9=Dale|first9=David|last10=Koeberl|first10=Dwight|last11=Somers|first11=Michael J.|last12=Burns Wechsler|first12=Stephanie|last13=Weinstein|first13=David A.|last14=Wolfsdorf|first14=Joseph I.|last15=Watson|first15=Michael S.|title=Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics|journal=Genetics in Medicine|year=2014|issn=1098-3600|doi=10.1038/gim.2014.128}}</ref>
*The [[prevalence]] of glycogen storage disease type 1 is approximately 5 per 100,000 individuals in Ashkenazi Jewish population.<ref name="KishnaniAustin2014">{{cite journal|last1=Kishnani|first1=Priya S.|last2=Austin|first2=Stephanie L.|last3=Abdenur|first3=Jose E.|last4=Arn|first4=Pamela|last5=Bali|first5=Deeksha S.|last6=Boney|first6=Anne|last7=Chung|first7=Wendy K.|last8=Dagli|first8=Aditi I.|last9=Dale|first9=David|last10=Koeberl|first10=Dwight|last11=Somers|first11=Michael J.|last12=Burns Wechsler|first12=Stephanie|last13=Weinstein|first13=David A.|last14=Wolfsdorf|first14=Joseph I.|last15=Watson|first15=Michael S.|title=Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics|journal=Genetics in Medicine|year=2014|issn=1098-3600|doi=10.1038/gim.2014.128}}</ref><ref>Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. 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/NBK1312/</ref>
 
===Case-fatality rate/Mortality rate===
*In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate/mortality rate of [number range]%.
*The case-fatality rate/mortality rate of [disease name] is approximately [number range].


===Age===
===Age===
*Patients of all age groups may develop [disease name].
*Glycogen storage disease type 1 is usually first diagnosed among [[infants]].<ref name="KishnaniAustin2014">{{cite journal|last1=Kishnani|first1=Priya S.|last2=Austin|first2=Stephanie L.|last3=Abdenur|first3=Jose E.|last4=Arn|first4=Pamela|last5=Bali|first5=Deeksha S.|last6=Boney|first6=Anne|last7=Chung|first7=Wendy K.|last8=Dagli|first8=Aditi I.|last9=Dale|first9=David|last10=Koeberl|first10=Dwight|last11=Somers|first11=Michael J.|last12=Burns Wechsler|first12=Stephanie|last13=Weinstein|first13=David A.|last14=Wolfsdorf|first14=Joseph I.|last15=Watson|first15=Michael S.|title=Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics|journal=Genetics in Medicine|year=2014|issn=1098-3600|doi=10.1038/gim.2014.128}}</ref>
*The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.
===Race===
*[Disease name] commonly affects individuals younger than/older than [number of years] years of age.  
*[Chronic disease name] is usually first diagnosed among [age group].
*[Acute disease name] commonly affects [age group].


===Race===
*Glycogen storage disease type 1 usually affects individuals of the Ashkenazi Jewish population.<ref name="KishnaniAustin2014">{{cite journal|last1=Kishnani|first1=Priya S.|last2=Austin|first2=Stephanie L.|last3=Abdenur|first3=Jose E.|last4=Arn|first4=Pamela|last5=Bali|first5=Deeksha S.|last6=Boney|first6=Anne|last7=Chung|first7=Wendy K.|last8=Dagli|first8=Aditi I.|last9=Dale|first9=David|last10=Koeberl|first10=Dwight|last11=Somers|first11=Michael J.|last12=Burns Wechsler|first12=Stephanie|last13=Weinstein|first13=David A.|last14=Wolfsdorf|first14=Joseph I.|last15=Watson|first15=Michael S.|title=Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics|journal=Genetics in Medicine|year=2014|issn=1098-3600|doi=10.1038/gim.2014.128}}</ref><ref>Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. 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/NBK1312/</ref>
*There is no racial predilection to [disease name].
*[Disease name] usually affects individuals of the [race 1] race. [Race 2] individuals are less likely to develop [disease name].
===Gender===
===Gender===
*[Disease name] affects men and women equally.
*Glycogen storage disease type 1 affects men and women equally.<ref>Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. 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/NBK1312/</ref>
*[Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1.
===Region===
*The majority of [disease name] cases are reported in [geographical region].
 
*[Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].
 
===Developed Countries===
 
===Developing Countries===
 
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
[[Category:Endocrinology]]
[[Category:Hepatology]]
[[Category:Gastroenterology]]
[[Category:Pediatrics]]
[[Category:Up-To-Date]]
[[Category:Genetic disorders]]
[[Category:Metabolic disorders]]

Latest revision as of 18:54, 14 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

The incidence of glycogen storage disease type 1 (GSD 1) is approximately 1 per 100,000 individuals worldwide. The prevalence of glycogen storage disease type 1 is approximately 5 per 100,000 individuals in Ashkenazi Jewish population. Glycogen storage disease type 1 is usually first diagnosed among infants.

Epidemiology and Demographics

Incidence

  • The incidence of glycogen storage disease type 1 (GSD 1) is approximately 1 per 100,000 individuals worldwide.[1][2]
  • Around 80% Cases of GSD 1 are of GSD type 1a.

Prevalence

  • The prevalence of glycogen storage disease type 1 is approximately 5 per 100,000 individuals in Ashkenazi Jewish population.[3][4]

Age

  • Glycogen storage disease type 1 is usually first diagnosed among infants.[3]

Race

  • Glycogen storage disease type 1 usually affects individuals of the Ashkenazi Jewish population.[3][5]

Gender

  • Glycogen storage disease type 1 affects men and women equally.[6]

References

  1. ↑ Mansfield BC (1999). "Molecular Genetics of Type 1 Glycogen Storage Diseases". Trends Endocrinol Metab. 10 (3): 104–113. PMID 10322403.
  2. ↑ "glycogen storage disease type I - Genetics Home Reference".
  3. ↑ 3.0 3.1 3.2 Kishnani, Priya S.; Austin, Stephanie L.; Abdenur, Jose E.; Arn, Pamela; Bali, Deeksha S.; Boney, Anne; Chung, Wendy K.; Dagli, Aditi I.; Dale, David; Koeberl, Dwight; Somers, Michael J.; Burns Wechsler, Stephanie; Weinstein, David A.; Wolfsdorf, Joseph I.; Watson, Michael S. (2014). "Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics". Genetics in Medicine. doi:10.1038/gim.2014.128. ISSN 1098-3600.
  4. ↑ Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. 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/NBK1312/
  5. ↑ Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. 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/NBK1312/
  6. ↑ Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. 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/NBK1312/
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