Glycogen storage disease type I laboratory findings
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Laboratory findings consistent with the diagnosis of glycogen storage disease include hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia.
Laboratory Findings
- Laboratory findings consistent with the diagnosis of glycogen storage disease include:[1][2][2]
- Hypoglycemia: Fasting blood glucose concentration <60 mg/dL (normal range: 70-120 mg/dL)
- Lactic acidosis: Blood lactate >2.5 mmol/L (normal range: 0.5-2.2 mmol/L)
- Hyperuricemia: Blood uric acid >5.0 mg/dL (normal range: 2.0-5.0 mg/dL)
- Hyperlipidemia:
- Triglycerides >250 mg/dL (normal range: 150-200 mg/dL);
- Note: Hypertriglyceridemia causes the plasma to appear "milky."
- Cholesterol >200 mg/dL (normal range: 100-200 mg/dL)
- Glucagon or epinephrine challenge test:
- Glucagon or epinephrine is administered.
- There is little or no increase in blood glucose concentration.
- Serum lactate is increased significantly in both cases.
References
- ↑ 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/
- ↑ 2.0 2.1 Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A; et al. (2011). "Glucose-6-phosphatase deficiency". Orphanet J Rare Dis. 6: 27. doi:10.1186/1750-1172-6-27. PMC 3118311. PMID 21599942.