Glycogen storage disease type II laboratory findings: Difference between revisions
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**Elevated AST | **Elevated AST | ||
**Elevated ALT | **Elevated ALT | ||
**Deficiency α-glucosidase in leukocytes, fibroblasts, and/or in muscle tissue | |||
==References== | ==References== |
Revision as of 14:42, 15 January 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
OR
Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
OR
[Test] is usually normal among patients with [disease name].
OR
Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].
OR
There are no diagnostic laboratory findings associated with [disease name].
Laboratory Findings
- Laboratory findings consistent with the diagnosis of glycogen storage disease type 2 include:[1][2]
- Elevated CK
- Elevated CK-MB
- Elevated LDH
- Elevated AST
- Elevated ALT
- Deficiency α-glucosidase in leukocytes, fibroblasts, and/or in muscle tissue
References
- ↑ van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT; et al. (2003). "The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature". Pediatrics. 112 (2): 332–40. PMID 12897283.
- ↑ Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ; et al. (2005). "The natural course of non-classic Pompe's disease; a review of 225 published cases". J Neurol. 252 (8): 875–84. doi:10.1007/s00415-005-0922-9. PMID 16133732.