Glycogen storage disease type I screening
Glycogen storage disease type I Microchapters |
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:
Overview
Screening
- Glycogen storage disease type 1 is an autosomal recessive disease.
- Carrier screening of at-risk relatives may be done.
- screening requires prior identification of G6PC or SLC37A4 pathogenic variants in the family.