Glycogen storage disease type III laboratory findings
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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
Laboratory findings consistent with the diagnosis of glycogen storage disease type 3 include ketotic hypoglycemia, increased creatine kinase, hyperlipidemia, and elevated liver transaminases.
Laboratory Findings
- Laboratory findings consistent with the diagnosis of glycogen storage disease type 3 include:[1][2]
- Hypoglycemia
- Ketosis
- Increased creatine kinase (CK)
- Hyperlipidemia
- Elevated liver transaminases
- Elevated aspartate aminotransferase (AST) [>500 - 1000 IU]
- Elevated alanine aminotransferase (ALT) [>500 - 1000 IU]
References
- ↑ Wolfsdorf JI, Weinstein DA (2003). "Glycogen storage diseases". Rev Endocr Metab Disord. 4 (1): 95–102. PMID 12618563.
- ↑ Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2016 Dec 29]. 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/NBK26372/