Other studies used for diagnosis of glycogen storage disease type 3 include identification of proband by either molecular genetic testing or enzyme activity assay. Molecular genetic testing shows biallelic pathogenic variants in AGL gene for patients with GSD type 3. Enzyme activity assay is performed for glycogen debranching enzyme activity. Molecular genetic testing is the diagnostic study of choice for glycogen storage disease type 3.
Glycogen storage disease type III other diagnostic studies
Glycogen storage disease type II other diagnostic studies
Glycogen storage disease type I other diagnostic studies
Glycogen storage disease type III diagnostic study of choice
Glycogen storage disease type I diagnostic study of choice
Glycogen storage disease type II diagnostic study of choice
Glycogen storage disease type I other imaging findings
Glycogen storage disease type II other imaging findings