Glycogen storage disease type I primary prevention: Difference between revisions
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{{Glycogen storage disease type I}} | {{Glycogen storage disease type I}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{Anmol}} | ||
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==Overview== | ==Overview== | ||
Effective measures for primary prevention of glycogen storage disease type 1 include [[genetic counseling]], [[prenatal diagnosis]], and [[Screening (medicine)|screening]]. | |||
==Primary Prevention== | ==Primary Prevention== | ||
Effective measures for primary prevention of glycogen storage disease type 1 include:<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> | Effective measures for primary prevention of glycogen storage disease type 1 include:<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> | ||
* Genetic counseling: Genetic counseling should be offered to all parents with a child with GSD type 1 and to all adults with GSD type 1. | * '''Genetic counseling:''' [[Genetic counseling]] should be offered to all parents with a child with GSD type 1 and to all adults with GSD type 1. | ||
* Prenatal diagnosis: The preferred method for prenatal diagnosis is molecular testing when both the mutations are known. | * '''Prenatal diagnosis:''' The preferred method for [[prenatal diagnosis]] is molecular testing when both the [[mutations]] are known. | ||
* Screening: | * '''Screening:''' The [[Probands|proband's]] [[G6PC]]/[[SLC37A4]] [[Mutation|mutations]] should be determined for diagnosis and direct further testing for family members. | ||
==References== | ==References== | ||
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{{WS}} | {{WS}} | ||
[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Hepatology]] | [[Category:Hepatology]] | ||
[[Category:Gastroenterology]] | [[Category:Gastroenterology]] | ||
[[Category:Pediatrics]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] |
Latest revision as of 17:52, 30 November 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
Effective measures for primary prevention of glycogen storage disease type 1 include genetic counseling, prenatal diagnosis, and screening.
Primary Prevention
Effective measures for primary prevention of glycogen storage disease type 1 include:[1]
- Genetic counseling: Genetic counseling should be offered to all parents with a child with GSD type 1 and to all adults with GSD type 1.
- Prenatal diagnosis: The preferred method for prenatal diagnosis is molecular testing when both the mutations are known.
- Screening: The proband's G6PC/SLC37A4 mutations should be determined for diagnosis and direct further testing for family members.
References
- ↑ 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.