Hereditary Fructose Intolerance (HFI), the ALDOB Gene, and Factor V Leiden
Introduction Hereditary Fructose Intolerance (HFI) is a rare inherited metabolic disorder caused by disease-causing mutations in the ALDOB gene . Individuals with HFI are unable to properly break down fructose, resulting in the accumulation of toxic metabolites that can damage the liver, kidneys, and other organs. Symptoms often begin in infancy when fructose-containing foods are introduced into the diet. Animal studies suggest metabolism is reduced in HCC due to loss of fructolytic enzymes such as ALDOB. We show that, in ALDOB-deficient HCC, fructose suppresses tumor growth through F1P-mediated inhibition of MPI. With the increasing popularity of direct-to-consumer genetic testing, many people discover variants in the ALDOB gene, including markers such as i5012665 , which corresponds to rs387906225 (Delta4E4) . Causes of HFI Hereditary fructose intolerance is caused by mutations in the ALDOB gene, which encodes the enzyme fructose-1-phosphate aldolase B . Depending on the ...