2551 - Hereditary fructose intolerance
- EDTA Blood, 2ml
- or oral mucosa (eSwab)
In hereditary fructose intolerance, a rare enzyme defect, fructose breakdown in the liver is reduced. There is a deficiency of aldolase-B, which leads to an accumulation of fructose-1-phosphate in the liver cells. Instead, only aldolase A is active. This leads to an inhibition of glycolysis, gluconeogenesis and glycogen metabolism, resulting in severe hypoglycaemia. As the condition progresses, severe liver damage up to liver failure occurs.
Note: The clarification of the much more frequent fructose malabsorption (intestinal fructose intolerance) is done with the fructose H2 breath test (see here).
- Mutation in aldolase B Gen: A149P, A174D, N334K
- Fructose intolerance
|Position:||No mandatory provision|
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