Glycogen storage disease type I diagnostic study of choice: Difference between revisions
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== Diagnostic Study of Choice == | == Diagnostic Study of Choice == | ||
GSD type 1 is diagnosed by identification of proband by either of the following: | GSD type 1 is diagnosed by identification of proband by either of the following:<ref>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/ | ||
* Biallelic pathogenic variants | </ref> | ||
* Molecular genetic testing | |||
* Enzyme Activity Assay | |||
===Molecular genetic testing=== | |||
*Molecular genetic testing shows: | |||
**Biallelic pathogenic variants in G6PC for patients with GSD type 1a | |||
**Biallelic pathogenic variants in SLC37A4 for patients with GSD type 1b | |||
==References== | ==References== | ||
Revision as of 17:02, 20 November 2017
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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:
- Biallelic pathogenic variants in G6PC for patients with GSD type 1a
- Biallelic pathogenic variants in SLC37A4 for patients with GSD type 1b
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/