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.[1]
- 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.[2]
- Analysis of debranching enzyme activity in either liver or muscle may be performed if molecular genetic testing is indeterminate.
References
- ↑ Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26372/
- ↑ Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26372/