Glycogen storage disease type III diagnostic study of choice
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
Glycogen storage disease type 3 is diagnosed by identification of proband by molecular genetic testing. Molecular genetic testing shows biallelic pathogenic variants in AGL for patients with GSD type 3.
Diagnostic Study of Choice
Glycogen storage disease type 3 is diagnosed by identification of proband by molecular genetic testing.
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
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/