Glycogen storage disease type III other diagnostic studies: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Glycogen storage disease type III}} | {{Glycogen storage disease type III}} | ||
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==Overview== | ==Overview== | ||
Other studies used for diagnosis of glycogen storage disease type 3 include identification of [[proband]] by either [[molecular]] [[genetic testing]] or [[Enzyme activity|enzyme activity assay]]. [[Molecular]] [[genetic testing]] shows biallelic [[pathogenic]] variants in AGL gene for patients with GSD type 3. [[Enzyme activity|Enzyme activity assay]] is performed for [[glycogen debranching enzyme]] activity. [[Molecular]] [[genetic testing]] is the diagnostic study of choice for glycogen storage disease type 3. | |||
[ | |||
Other | ==Other Imaging Findings== | ||
===Molecular genetic testing=== | |||
*[[Molecular]] [[genetic testing]] shows biallelic [[pathogenic]] variants in AGL gene for patients with GSD type 3.<ref>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/ | |||
</ref> | |||
*Methods for [[molecular]] [[genetic testing]] include: | |||
**Single-gene testing | |||
**Multi-gene panel | |||
*[[Molecular]] [[genetic testing]] is preferred over [[Enzyme activity|enzyme activity assay]] due to: | |||
**Relatively high [[sensitivity]] | |||
**Need for [[liver biopsy]] for [[Enzyme activity|enzyme activity assay]] | |||
* | ===Enzyme Activity Assay=== | ||
*[[Enzyme activity|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.<ref>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/ | |||
</ref> | |||
*Analysis of [[glycogen debranching enzyme]] activity in either liver or muscle may be performed if [[molecular]] [[genetic testing]] is indeterminate. | |||
* | |||
==References== | ==References== | ||
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[[Category:Gastroenterology]] | |||
[[Category:Pediatrics]] | |||
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[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] | |||
Latest revision as of 15:12, 29 December 2017
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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
Other studies used for diagnosis of glycogen storage disease type 3 include identification of proband by either molecular genetic testing or enzyme activity assay. Molecular genetic testing shows biallelic pathogenic variants in AGL gene for patients with GSD type 3. Enzyme activity assay is performed for glycogen debranching enzyme activity. Molecular genetic testing is the diagnostic study of choice for glycogen storage disease type 3.
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 glycogen 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/