Glycogen storage disease type I screening

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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.