Glycogen storage disease type III other diagnostic studies
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Other Imaging Findings
Molecular genetic testing
- Molecular genetic testing shows biallelic pathogenic variants in AGL gene for patients with GSD type 3.
- Methods for molecular genetic testing include:
- Single-gene testing
- Multi-gene panel
- Molecular genetic testing is preferred over enzyme activity assay due to:
- Relatively high sensitivity
- Need for liver biopsy for enzyme activity assay
Enzyme Activity Assay
Enzyme activity assay is performed on frozen liver (ample of 15-20 mg) obtained by percutaneous or open liver biopsy. Transport should be done on dry ice via overnight delivery to the clinical diagnostic laboratory. Analysis of debranching enzyme activity in either liver or muscle may be performed if molecular genetic testing is indeterminate.