Von Gierke Disease
Alternate Names : Type I Glycogen Storage Disease
Von Gierke Disease Diagnosis & Tests
- Enlarged liver with accumulated glycogen and fat on exam
- Liver tumors (adenomas)
- Low blood sugar (hypoglycemia)
- High blood uric acid (a risk factor for gout)
- High blood lactic acid
- Increase in blood lactic acid and failure to increase blood sugar when adrenalin or glucagon are administered
- High blood fats, especially triglycerides
- Inability to tolerate fasting
- Improvement in response to frequent feedings
- Kidney stones or kidney failure
- Biopsy of liver or kidney showing accumulated glycogen
- Enzyme tests on liver biopsy
- Genetic tests for mutations
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