Glycogen storage disease type I diagnostic study of choice

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

Overview

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

Biallelic pathogenic variants in G6PC (GSDIa) or SLC37A4 (GSDIb) on molecular genetic testing
Deficient hepatic enzyme activity