Glycogen storage disease type I other diagnostic studies
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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Overview
Other studies used for diasnosis of glycogen storage disease type 1 include identification of proband by either molecular genetic testing or enzyme activity assay. Molecular genetic testing shows biallelic pathogenic variants in G6PC for patients with GSD type 1a and biallelic pathogenic variants in SLC37A4 for patients with GSD type 1b. Enzyme activity assay performed are glucose-6-phosphatase (G6Pase) catalytic activity and glucose-6-phosphate exchanger SLC37A4 (transporter) activity.
Other Diagnostic Studies
Glycogen storage disease type 1 is diagnosed by identification of proband by either of the following:[1]
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 | ||
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
- 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.[4]
- Enzyme 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/