Hereditary Fructose Intolerance
Alternate Names : Fructose Aldolase B-Deficiency, Fructose Intolerance, Fructosemia
Diagnosis & Tests
Physical examination may also show:
Tests that confirm the diagnosis include:
- Positive urine test for reducing substances
- Hypoglycemia (low blood sugar), especially after receiving fructose/sucrose
- Excess uric acid in blood (hyperuricemia)
- Failure of the kidney to work properly with abnormally high amounts of sugars, amino acids and salts appearing in urine
- Liver failure shown with blood test
- Bleeding tendency revealed by coagulation tests of blood
- Liver biopsy
- Enzyme studies
Genetic testing for fructose intolerance may be available
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