Glycogen storage disease type I diagnostic study of choice: Difference between revisions

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===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.
*Enzymatic activity assay performed are:
**Glucose-6-phosphatase (G6Pase) catalytic activity
**Glucose-6-phosphate exchanger SLC37A4 (transporter) activity


==References==
==References==
{{reflist|2}}
{{reflist|2}}

Revision as of 17:30, 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:[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
Genetic testing Analysis performed
Serial single-gene testing
  • First sequence analysis of G6PC is done
  • sequence analysis of SLC37A4 if no G6PC pathogenic variants identified
Targeted analysis
  • For G6PC pathogenic variant
    • Ashkenazi Jewish ancestry[3]
      • p.Arg83Cys analysis
  • For G6PD pathogenic variant
    • Old Order Amish ancestry
      • p.Gln347Ter analysis
Multigene panel
  • Multiple genes are sequenced at the same time including G6PC, SLC37A4 and other related genes when differential diagnosis is considered
Comprehensive genomic testing Exome sequencing
  • Considered if the diagnosis is not confirmed by serial single-gene testing and/or use of a multigene panel in an individual with features of GSDI
Genome sequencing


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.
  • Enzymatic activity assay performed are:
    • Glucose-6-phosphatase (G6Pase) catalytic activity
    • Glucose-6-phosphate exchanger SLC37A4 (transporter) activity

References

  1. ↑ 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/
  2. ↑ 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/
  3. ↑ 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.
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