Glycogen storage disease type II diagnostic study of choice
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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
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. Decreased activity of GAA in fibroblasts a dried blood sample is confirmatory of glycogen storage disease type 2.
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 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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COMMON PRESENTING SYMPTOMS |
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PERTINENT PATIENT FINDNGS |
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INITIAL CLINICAL FINDINGS AND INVESTIGATIONS |
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CONFIRMATOY STUDIES |
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Adapted from GENETICS IN MEDICINE[3] |
ABBREVIATIONS: LVOTO - left ventricular outlet tract obstruction; IC - intercostal; SC - subcostal; LLL - left lower lung; EMG - Electromyogtaphy; NCS - Nerve conduction study; GAA - acid-alpha glucosidase; CK - creatine kinase; AST - aspartate aminotransferase; ALT - alanine aminotransferase
Diagnostic algorithm for Late onset (>1 year) glyogen storage disease type II | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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COMMON PRESENTING SYMPTOMS |
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PERTINENT PATIENT FINDNGS |
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INITIAL CLINICAL FINDINGS AND INVESTIGATIONS |
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CONFIRMATOY STUDIES |
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Adapted from GENETICS IN MEDICINE[3] |
ABBREVIATIONS: EMG - Electromyogtaphy; NCS - Nerve conduction study; GAA - acid-alpha glucosidase; CK - creatine kinase; AST - aspartate aminotransferase; ALT - alanine aminotransferase
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.
- ↑ 3.0 3.1 3.2 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.