DISEASE INFORMATION
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.