Glycogen storage disease type III primary prevention: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Glycogen storage disease type III}} | {{Glycogen storage disease type III}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{Anmol}} | ||
==Overview== | ==Overview== | ||
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Effective measures for primary prevention of glycogen storage disease type 3 include:<ref name="KishnaniAustin2010">{{cite journal|last1=Kishnani|first1=Priya S|last2=Austin|first2=Stephanie L|last3=Arn|first3=Pamela|last4=Bali|first4=Deeksha S|last5=Boney|first5=Anne|last6=Case|first6=Laura E|last7=Chung|first7=Wendy K|last8=Desai|first8=Dev M|last9=El-Gharbawy|first9=Areeg|last10=Haller|first10=Ronald|last11=Smit|first11=G Peter A|last12=Smith|first12=Alastair D|last13=Hobson-Webb|first13=Lisa D|last14=Wechsler|first14=Stephanie Burns|last15=Weinstein|first15=David A|last16=Watson|first16=Michael S|title=Glycogen Storage Disease Type III diagnosis and management guidelines|journal=Genetics in Medicine|volume=12|issue=7|year=2010|pages=446–463|issn=1098-3600|doi=10.1097/GIM.0b013e3181e655b6}}</ref> | Effective measures for primary prevention of glycogen storage disease type 3 include:<ref name="KishnaniAustin2010">{{cite journal|last1=Kishnani|first1=Priya S|last2=Austin|first2=Stephanie L|last3=Arn|first3=Pamela|last4=Bali|first4=Deeksha S|last5=Boney|first5=Anne|last6=Case|first6=Laura E|last7=Chung|first7=Wendy K|last8=Desai|first8=Dev M|last9=El-Gharbawy|first9=Areeg|last10=Haller|first10=Ronald|last11=Smit|first11=G Peter A|last12=Smith|first12=Alastair D|last13=Hobson-Webb|first13=Lisa D|last14=Wechsler|first14=Stephanie Burns|last15=Weinstein|first15=David A|last16=Watson|first16=Michael S|title=Glycogen Storage Disease Type III diagnosis and management guidelines|journal=Genetics in Medicine|volume=12|issue=7|year=2010|pages=446–463|issn=1098-3600|doi=10.1097/GIM.0b013e3181e655b6}}</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 AGL [[mutation]] is known. Mutation analysis is performed either on cultured chorionic villus samples or amniocytes. | * '''Prenatal diagnosis:''' The preferred method for [[prenatal diagnosis]] is molecular testing when AGL [[mutation]] is known. Mutation analysis is performed either on cultured [[Chorionic villus sampling|chorionic villus]] samples or [[Amniocyte|amniocytes]]. | ||
* '''Screening:''' The [[Probands|proband's]] AGL [[Mutation|mutations]] should be determined for diagnosis and direct further testing for family members. | * '''Screening:''' The [[Probands|proband's]] AGL [[Mutation|mutations]] should be determined for diagnosis and direct further testing for family members. | ||
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{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
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[[Category:Endocrinology]] | |||
[[Category:Hepatology]] | |||
[[Category:Gastroenterology]] | |||
[[Category:Pediatrics]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] | |||
Latest revision as of 17:18, 16 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
Effective measures for primary prevention of glycogen storage disease type 3 include genetic counseling, prenatal diagnosis, and screening.
Primary Prevention
Effective measures for primary prevention of glycogen storage disease type 3 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 AGL mutation is known. Mutation analysis is performed either on cultured chorionic villus samples or amniocytes.
- Screening: The proband's AGL mutations should be determined for diagnosis and direct further testing for family members.
References
- ↑ Kishnani, Priya S; Austin, Stephanie L; Arn, Pamela; Bali, Deeksha S; Boney, Anne; Case, Laura E; Chung, Wendy K; Desai, Dev M; El-Gharbawy, Areeg; Haller, Ronald; Smit, G Peter A; Smith, Alastair D; Hobson-Webb, Lisa D; Wechsler, Stephanie Burns; Weinstein, David A; Watson, Michael S (2010). "Glycogen Storage Disease Type III diagnosis and management guidelines". Genetics in Medicine. 12 (7): 446–463. doi:10.1097/GIM.0b013e3181e655b6. ISSN 1098-3600.