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

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{{Glycogen storage disease type I}}
{{Glycogen storage disease type I}}


{{CMG}} {{AE}}
{{CMG}} {{AE}} {{Anmol}}


== Overview ==
== Overview ==
* The page name should be '''"Diagnostic study of choice for [disease name]"''', with only the first letter of the title capitalized. Note that the page is called "Diagnostic study of choice."
Glycogen storage disease type 1 is diagnosed by identification of [[proband]] by either [[molecular]] [[genetic testing]] or [[Enzyme activity|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|Enzyme activity assay]] performed are [[glucose-6-phosphatase]] (G6Pase) [[catalytic activity]] and [[glucose-6-phosphate]] exchanger [[SLC37A4]] ([[transporter]]) activity.
* '''Goal:'''
**To describe the most efficient/sensitive/specific test that is utilized for diagnosis of [disease name].
**To describe the gold standard test for the diagnosis of [disease name].
**To describe the diagnostic criteria, which may be based on clinical findings, physical exam signs, pathological findings, lab findings, findings on imaging, or even findings that exclude other diseases.
* As with all microchapter pages linking to the main page, at the top of the edit box put <nowiki>{{CMG}}</nowiki>, your name template, and the microchapter navigation template you created at the beginning.
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* Remember to follow the same format and capitalization of letters as outlined in the template below.
* You should include the name of the disease in the first sentence of every subsection.


== Diagnostic Study of Choice ==
== Diagnostic Study of Choice ==


===== Template statements =====
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>
* [[Molecular]] [[genetic testing]]
* [[Enzyme activity|Enzyme activity assay]]


=== Gold standard/Study of choice: ===
===Molecular genetic testing===
* [Name of the investigation] is the gold standard test for the diagnosis of [disease name].
*[[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/
* The following result of [gold standard test] is confirmatory of [disease name]:
</ref>
** Result 1
**Biallelic [[pathogenic]] variants in [[G6PC]] for patients with GSD type 1a
** Result 2
**Biallelic [[pathogenic]] variants in [[SLC37A4]] for patients with GSD type 1b
* The [name of investigation] should be performed when:
** The patient presented with symptoms/signs 1. 2, 3.
** A positive [test] is detected in the patient.
* [Name of the investigation] is the gold standard test for the diagnosis of [disease name].
* The diagnostic study of choice for [disease name] is [name of investigation].
* There is no single diagnostic study of choice for the diagnosis of [disease name].
* There is no single diagnostic study of choice for the diagnosis of [disease name], but [disease name] can be diagnosed based on [name of the investigation 1] and [name of the investigation 2].
* [Disease name] is mainly diagnosed based on clinical presentation.
* Investigations:
** Among patients who present with clinical signs of [disease name], the [investigation name] is the most specific test for the diagnosis.
** Among patients who present with clinical signs of [disease name], the [investigation name] is the most sensitive test for diagnosis.
** Among patients who present with clinical signs of [disease name], the [investigation name] is the most efficient test for diagnosis.


==== The comparison table for diagnostic studies of choice for [disease name] ====
{|
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! colspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Molecular genetic testing
! style="background: #FFFFFF; color: #FFFFFF; text-align: center;" |
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Sensitivity
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specificity
|-
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 1
! colspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Genetic testing
| style="background: #DCDCDC; padding: 5px; text-align: center;" |✔
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Analysis performed
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
|-
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 2
| colspan="2" style="background:#DCDCDC;" align="center" + |'''Serial single-gene testing'''
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
| style="background:#F5F5F5;" + |
| style="background: #DCDCDC; padding: 5px; text-align: center;" |✔
*First sequence analysis of [[G6PC]] is done
*Sequence analysis of [[SLC37A4]] if no [[G6PC]] [[pathogenic]] variants identified
|-
| colspan="2" style="background:#DCDCDC;" align="center" + |'''Targeted analysis'''
| style="background:#F5F5F5;" + |
*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>
*** p.Arg83Cys analysis
*For [[G6PD]] [[pathogenic]] variant
** Old Order Amish ancestry
*** p.Gln347Ter analysis
|-
| colspan="2" style="background:#DCDCDC;" align="center" + |'''Multigene panel'''
| style="background:#F5F5F5;" + |
*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'''
| style="background:#DCDCDC;" align="center" + |'''Exome sequencing'''
| 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 GSD type I
|-
| style="background:#DCDCDC;" align="center" + |'''Genome sequencing'''
|}
|}
<small> ✔= The best test based on the feature </small>
===== Diagnostic results =====
The following result of [investigation name] is confirmatory of [disease name]:
* Result 1
* Result 2
===== Sequence of Diagnostic Studies =====
The [name of investigation] should be performed when:
* The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
* A positive [test] is detected in the patient, to confirm the diagnosis.
=== Diagnostic Criteria ===
* Here you should describe the details of the diagnostic criteria.
*Always mention the name of the criteria/definition you are about to list (e.g. modified Duke criteria for diagnosis of endocarditis / 3rd universal definition of MI) and cite the primary source of where this criteria/definition is found.
*Although not necessary, it is recommended that you include the criteria in a table. Make sure you always cite the source of the content and whether the table has been adapted from another source.
*Be very clear as to the number of criteria (or threshold) that needs to be met out of the total number of criteria.
*Distinguish criteria based on their nature (e.g. clinical criteria / pathological criteria/ imaging criteria) before discussing them in details.
*To view an example (endocarditis diagnostic criteria), click [[Endocarditis diagnosis|here]]
*If relevant, add additional information that might help the reader distinguish various criteria or the evolution of criteria (e.g. original criteria vs. modified criteria).
*You may also add information about the sensitivity and specificity of the criteria, the pre-test probability, and other figures that may help the reader understand how valuable the criteria are clinically.
* [Disease name] is mainly diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
* There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].
* The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
* The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].
* [Disease name] may be diagnosed at any time if one or more of the following criteria are met:
** Criteria 1
** Criteria 2
** Criteria 3


IF there are clear, established diagnostic criteria:
*[[Molecular]] [[genetic testing]] is preferred over [[Enzyme activity|enzyme activity assay]] due to:
*The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
**Relatively high [[sensitivity]]
*The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
**Need for [[liver biopsy]] for [[Enzyme activity|enzyme activity assay]]
*The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
IF there are no established diagnostic criteria: 
*There are no established criteria for the diagnosis of [disease name].


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


==References==
==References==
* References should be cited for the material that you have put on your page. Type in <nowiki>{{reflist|2}}</nowiki>.This will generate your references in small font, in two columns, with links to the original article and abstract.
{{reflist|2}}
* For information on how to add references into your page, click [[Adding References to Articles|here]].
[[Category:Endocrinology]]
[[Category:Hepatology]]
[[Category:Gastroenterology]]
[[Category:Pediatrics]]
[[Category:Up-To-Date]]
[[Category:Genetic disorders]]
[[Category:Metabolic disorders]]
{{WH}}
{{WS}}

Latest revision as of 17:49, 30 November 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

Glycogen storage disease type 1 is diagnosed by 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.

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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