Glycogen storage disease type II diagnostic study of choice
Glycogen storage disease type II Microchapters |
Differentiating Glycogen storage disease type II from other Diseases |
---|
Diagnosis |
Treatment |
Case Studies |
Glycogen storage disease type II diagnostic study of choice On the Web |
American Roentgen Ray Society Images of Glycogen storage disease type II diagnostic study of choice |
FDA on Glycogen storage disease type II diagnostic study of choice |
CDC on Glycogen storage disease type II diagnostic study of choice |
Glycogen storage disease type II diagnostic study of choice in the news |
Blogs on Glycogen storage disease type II diagnostic study of choice |
Directions to Hospitals Treating Glycogen storage disease type II |
Risk calculators and risk factors for Glycogen storage disease type II diagnostic study of choice |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
- The page name should be "[Disease name] diagnostic study of choice", with only the first letter of the title capitalized. Note that the page is called "Diagnostic study of choice."
- 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 {{CMG}}, your name template, and the microchapter navigation template you created at the beginning.
- Remember to create links within WikiDoc by placing [[square brackets]] around key words which you want to link to other pages. Make sure you makes your links as specific as possible. For example, if a sentence contained the phrase anterior spinal artery syndrome, the link should be to anterior spinal artery syndrome not anterior or artery or syndrome. For more information on how to create links, click here.
- 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
Gold standard
- Acid α-glucosidase (GAA) activity in fibroblast of a dried blood sample is the gold standard test for the diagnosis of glycogen storage disease type 2.[1][2]
- The following result of acid α-glucosidase (GAA) activity in fibroblast of a dried blood sample is confirmatory of glycogen storage disease type 2:
- Decreased activity of GAA in fibroblasts
Diagnostic algorithms
Diagnostic algorithm for Infantile onset glyogen storage disease type II | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COMMON PRESENTING SYMPTOMS |
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PERTINENT PATIENT FINDNGS |
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
INITIAL CLINICAL FINDINGS AND INVESTIGATIONS |
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
CONFIRMATOY STUDIES |
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adopted from GENETICS IN MEDICINE |
Diagnostic algorithm for Late onset (>1 year) glyogen storage disease type II | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COMMON PRESENTING SYMPTOMS |
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PERTINENT PATIENT FINDNGS |
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
INITIAL CLINICAL FINDINGS AND INVESTIGATIONS |
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
CONFIRMATOY STUDIES |
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adopted from GENETICS IN MEDICINE |
References
- ↑ Pompe Disease Diagnostic Working Group. Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E; et al. (2008). "Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting". Mol Genet Metab. 93 (3): 275–81. doi:10.1016/j.ymgme.2007.09.006. PMID 18078773.
- ↑ Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Bali D; et al. (2007). "Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots". Mol Genet Metab. 90 (4): 449–52. doi:10.1016/j.ymgme.2006.12.006. PMID 17270480.
- ↑ ACMG Work Group on Management of Pompe Disease. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ; et al. (2006). "Pompe disease diagnosis and management guideline". Genet Med. 8 (5): 267–88. doi:10.109701.gim.0000218152.87434.f3 Check
|doi=
value (help). PMC 3110959. PMID 16702877.