Glycogen storage disease type I primary prevention
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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.