Glycogen storage disease type III primary prevention
|
Glycogen storage disease type III Microchapters |
|
Differentiating Glycogen storage disease type III from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Glycogen storage disease type III primary prevention On the Web |
|
American Roentgen Ray Society Images of Glycogen storage disease type III primary prevention |
|
Glycogen storage disease type III primary prevention in the news |
|
Blogs on Glycogen storage disease type III primary prevention |
|
Risk calculators and risk factors for Glycogen storage disease type III primary prevention |
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.