Glycogen storage disease type II primary prevention: Difference between revisions
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==Overview== | ==Overview== | ||
==Primary Prevention== | ==Primary Prevention== | ||
Revision as of 18:27, 19 January 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Primary Prevention
Effective measures for primary prevention of glycogen storage disease type 2 (GSD type 2) include:[1]
- Genetic counseling: Genetic counseling should be offered to all parents with a child with GSD type 2 and to all adults with GSD type 2.
- Prenatal diagnosis: The preferred method for prenatal diagnosis is by measuring enzyme activity in uncultured chorionic villus samples.[2][3]
- Screening:
- The proband's GAA mutations should be determined for diagnosis and direct further testing for family members.
- Mutation analysis is the gold standard when there is a family history of GSD type 2.[4]
- If the mutation of glycogen storage disease type 2 is identified in a family, preimplantation genetic diagnosis may also be used.
References
- ↑ ACMG Work Group on Management of Pompe Disease. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ; et al. (2006). "Pompe disease diagnosis and management guideline". Genet Med. 8 (5): 267–88. doi:10.109701.gim.0000218152.87434.f3 Check
|doi=value (help). PMC 3110959. PMID 16702877. - ↑ Park HK, Kay HH, McConkie-Rosell A, Lanman J, Chen YT (1992). "Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate". Prenat Diagn. 12 (3): 169–73. PMID 1589418.
- ↑ Besançon AM, Castelnau L, Nicolesco H, Dumez Y, Poenaru L (1985). "Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy". Clin Genet. 27 (5): 479–82. PMID 3891160.
- ↑ Kleijer WJ, van der Kraan M, Kroos MA, Groener JE, van Diggelen OP, Reuser AJ; et al. (1995). "Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis?". Pediatr Res. 38 (1): 103–6. doi:10.1203/00006450-199507000-00018. PMID 7478785.