Glycogen storage disease type I diagnostic study of choice

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

Diagnostic Study of Choice

GSD type 1 is diagnosed by identification of proband by either of the following:

• Molecular genetic testing
• Enzyme Activity Assay

Molecular genetic testing

• Molecular genetic testing shows:
  • Biallelic pathogenic variants in G6PC for patients with GSD type 1a
  • Biallelic pathogenic variants in SLC37A4 for patients with GSD type 1b