Fructose intolerance


Detection of the polymorphisms rs1800546, linked to fructose intolerance



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The LAMP Human Fructose Intolerance KIT is an in vitro diagnostic KIT for the detection of the main mutation linked to Hereditary fructose intolerance (rs1800546) by Loop-mediated isothermal amplification (LAMP). This assay is dedicated to professional use in diagnostic laboratory. The device is not for self-testing.


Hereditary fructose intolerance is an autosomal recessive disorder, caused by a deficiency in the activity of aldolase B, a major actor in the metabolism pathway of fructose. Multiple mutations have been described, of which the A149P polymorphism ( rs1800546 ) is linked to 65% of hereditary fructose intolerance. Clinical symptoms include vomiting, abdominal pain and diarrhea. Often patients show a food aversion to fructose rich foods. A strict diet avoiding fructose containing foods is recommended.

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