Glycogen storage disease type I diagnostic study of choice
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:
Overview
Diagnostic Study of Choice
GSD type 1 is diagnosed by identification of proband by either of the following:[1]
- Molecular genetic testing
- Enzyme Activity Assay
Molecular genetic testing
- Molecular genetic testing shows:[2]
- Biallelic pathogenic variants in G6PC for patients with GSD type 1a
- Biallelic pathogenic variants in SLC37A4 for patients with GSD type 1b
Molecular genetic testing | ||
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Genetic testing | Analysis performed | |
Serial single-gene testing |
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Targeted analysis |
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Multigene panel |
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Comprehensive genomic testing | Exome sequencing |
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Genome sequencing |
- 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
- Enzymatic 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.[4]
- Enzymatic activity assay performed are:
- Glucose-6-phosphatase (G6Pase) catalytic activity
- Glucose-6-phosphate exchanger SLC37A4 (transporter) activity
References
- ↑ Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. 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/NBK1312/
- ↑ Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. 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/NBK1312/
- ↑ Ekstein J, Rubin BY, Anderson SL, Weinstein DA, Bach G, Abeliovich D; et al. (2004). "Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population". Am J Med Genet A. 129A (2): 162–4. doi:10.1002/ajmg.a.30232. PMID 15316959.
- ↑ Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. 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/NBK1312/