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

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== Overview ==
== Overview ==
Glycogen storage disease type 1 is diagnosed by identification of [[proband]] by either [[molecular]] [[genetic testing]] or [[Enzyme activity|enzyme activity assay]].
== Diagnostic Study of Choice ==
== Diagnostic Study of Choice ==


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/
Glycogen storage disease 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/
</ref>
</ref>
* Molecular genetic testing
* [[Molecular]] [[genetic testing]]
* Enzyme Activity Assay
* [[Enzyme activity|Enzyme activity assay]]


===Molecular genetic testing===
===Molecular genetic testing===
*Molecular genetic testing shows:<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/
*[[Molecular]] [[genetic testing]] shows:<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/
</ref>
</ref>
**Biallelic pathogenic variants in G6PC for patients with GSD type 1a
**Biallelic [[pathogenic]] variants in [[G6PC]] for patients with GSD type 1a
**Biallelic pathogenic variants in SLC37A4 for patients with GSD type 1b
**Biallelic [[pathogenic]] variants in [[SLC37A4]] for patients with GSD type 1b


{|
{|
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! style="background:#4479BA; color: #FFFFFF;" align="center" + |Analysis performed
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Analysis performed
|-
|-
| colspan="2" style="background:#DCDCDC;" align="center" + |Serial single-gene testing
| colspan="2" style="background:#DCDCDC;" align="center" + |'''Serial single-gene testing'''
| style="background:#F5F5F5;" + |
| style="background:#F5F5F5;" + |
*First sequence analysis of G6PC is done
*First sequence analysis of [[G6PC]] is done
*sequence analysis of SLC37A4 if no G6PC pathogenic variants identified
*Sequence analysis of [[SLC37A4]] if no [[G6PC]] [[pathogenic]] variants identified
|-
|-
| colspan="2" style="background:#DCDCDC;" align="center" + |Targeted analysis
| colspan="2" style="background:#DCDCDC;" align="center" + |'''Targeted analysis'''
| style="background:#F5F5F5;" + |
| style="background:#F5F5F5;" + |
*For G6PC pathogenic variant
*For [[G6PC]] [[pathogenic]] variant
** Ashkenazi Jewish ancestry<ref name="pmid15316959">{{cite journal| author=Ekstein J, Rubin BY, Anderson SL, Weinstein DA, Bach G, Abeliovich D et al.| title=Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. | journal=Am J Med Genet A | year= 2004 | volume= 129A | issue= 2 | pages= 162-4 | pmid=15316959 | doi=10.1002/ajmg.a.30232 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15316959  }} </ref>
** Ashkenazi Jewish ancestry<ref name="pmid15316959">{{cite journal| author=Ekstein J, Rubin BY, Anderson SL, Weinstein DA, Bach G, Abeliovich D et al.| title=Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. | journal=Am J Med Genet A | year= 2004 | volume= 129A | issue= 2 | pages= 162-4 | pmid=15316959 | doi=10.1002/ajmg.a.30232 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15316959  }} </ref>
*** p.Arg83Cys analysis
*** p.Arg83Cys analysis
*For G6PD pathogenic variant
*For [[G6PD]] [[pathogenic]] variant
** Old Order Amish ancestry
** Old Order Amish ancestry
*** p.Gln347Ter analysis
*** p.Gln347Ter analysis
|-
|-
| colspan="2" style="background:#DCDCDC;" align="center" + |Multigene panel
| colspan="2" style="background:#DCDCDC;" align="center" + |'''Multigene panel'''
| style="background:#F5F5F5;" + |
| style="background:#F5F5F5;" + |
*Multiple genes are sequenced at the same time including  G6PC, SLC37A4 and other related genes when differential diagnosis is considered
*Multiple genes are sequenced at the same time including  [[G6PC]], [[SLC37A4]] and other related genes when differential diagnosis is considered
|-
|-
| rowspan="2" style="background:#DCDCDC;" align="center" + |Comprehensive genomic testing
| rowspan="2" style="background:#DCDCDC;" align="center" + |'''Comprehensive genomic testing'''
| style="background:#DCDCDC;" align="center" + |Exome sequencing  
| style="background:#DCDCDC;" align="center" + |'''Exome sequencing'''
|rowspan="2" style="background:#F5F5F5;" + |
| rowspan="2" style="background:#F5F5F5;" + |
*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
*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 GSD type I
|-
|-
| style="background:#DCDCDC;" align="center" + |Genome sequencing
| style="background:#DCDCDC;" align="center" + |'''Genome sequencing'''
|}
|}


*Molecular genetic testing is preferred over enzyme activity assay due to:
*[[Molecular]] [[genetic testing]] is preferred over [[Enzyme activity|enzyme activity assay]] due to:
**Relatively high sensitivity
**Relatively high [[sensitivity]]
**Need for liver biopsy for enzyme activity assay
**Need for [[liver biopsy]] for [[Enzyme activity|enzyme activity assay]]


===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.<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/
*[[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>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/
</ref>
</ref>
*Enzymatic activity assay performed are:
*[[Enzyme activity|Enzyme activity assay]] performed are:
**Glucose-6-phosphatase (G6Pase) catalytic activity
**[[Glucose-6-phosphatase]] (G6Pase) [[catalytic activity]]
**Glucose-6-phosphate exchanger SLC37A4 (transporter) activity
**[[Glucose-6-phosphate]] exchanger [[SLC37A4]] ([[transporter]]) activity


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

Revision as of 18:25, 21 November 2017

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:

Overview

Glycogen storage disease type 1 is diagnosed by identification of proband by either molecular genetic testing or enzyme activity assay.

Diagnostic Study of Choice

Glycogen storage disease type 1 is diagnosed by identification of proband by either of the following:[1]

Molecular genetic testing

Molecular genetic testing
Genetic testing Analysis performed
Serial single-gene testing
Targeted 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 GSD type I
Genome sequencing

Enzyme Activity Assay

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.
  4. ↑ 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/
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