Glycogen storage disease type I screening
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Glycogen storage disease type I Microchapters |
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Differentiating Glycogen storage disease type I from other Diseases |
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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
Glycogen storage disease type 1 is an autosomal recessive disease so carrier screening of at-risk relatives may be done. Screening requires prior identification of G6PC or SLC37A4 pathogenic variants in the family.
Screening
- Glycogen storage disease type 1 is an autosomal recessive disease.[1]
- Carrier screening of at-risk relatives may be done.
- Screening requires prior identification of G6PC or SLC37A4 pathogenic variants in the family.
References
- ↑ Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/