Analysis index

2 ml EDTA-blood

Alternatively, mucosal swab.

Consent declaration required.

Hypoglycemia, bowel problems, nausea and vomiting following consumption of fructose-containing products.

Fructose intolerance is a rare (prevalence approximately 1:10.000 – 1:20.000) autosomal recessive inherited illness, based on a defect of aldolase B. Following consumption of fructose, the fructose-1-phosphate, which develops in the intermediary metabolism, accumulates and has an inhibiting effect towards gluconeogenesis and glycogenolysis. The consequence is a hypoglycemia with nausea and vomiting, in the further progress with ongoing fructose intake, serious liver dysfunction disorders with hepatomegaly may develop. Fructose intolerance is not to be confused with the much more common fructose malabsorption, which is based on a defect of the intestinal GLUT-5-transporter and leads to similar problems as lactose intolerance (diarrhea, bellyaches). For the diagnostics of this, a H2-exhalation test is available.

Three mutations (A149P, A174D und N334K) are responsible for about 95 % of all fructose intolerances in Europe and are tested in this laboratory.