Glycogen storage<unk>  type 1 is diagnosed by identification of proband by either molecular genetic testing or enzyme activity assay. Molecular genetic testing shows biallelic pathogenic variants in G6PC for patients with GSD type 1a and biallelic pathogenic variants in SLC37A4 for patients with GSD type 1b. Enzyme activity assay performed are glucose-6-phosphatase (G6Pase) catalytic activity and glucose-6-phosphate exchanger SLC37A4 (transporter) activity.
Glycogen storage disease type I diagnostic study of choice
Glycogen storage disease type II diagnostic study of choice
Glycogen storage disease type III diagnostic study of choice
Glycogen storage disease type I other diagnostic studies
Glycogen storage disease type II other diagnostic studies
Glycogen storage disease type III other diagnostic studies
Glycogen storage disease type I other imaging findings
Glycogen storage disease type II other imaging findings