Detection of the polymorphisms rs1800546, linked to fructose intolerance.
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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