Hereditary fructose intolerance (HFI) is caused due to the absence of the enzyme Aldolase B. HFI is an autosomal recessive disorder and an inborn error of fructose metabolism. Hereditary fructose intolerance is associated with defects in fructose metabolism in the body. The metabolic enzyme Aldolase B is also known as liver-type aldolase or fructose-bisphosphate aldolase B. Aldolase B belongs to the class I fructose 1,6-bisphosphate aldolase enzyme.
Aldolase B is encoded by the ALDOB gene in Humans. The gene is located on chromosome 9. The ALDOB gene contains 14,500 bp and 9 exons. Aldolase B plays a key role in fructose metabolism. The enzyme is a part of the glycolytic-gluconeogenic pathway.
Fructose-1-phosphate is cleaved by the enzyme aldolase B into glyceraldehyde and dihydroxyacetone phosphate (DHAP). HFI causes intracellular accumulation of fructose-1-phosphate in the liver. HFI is characterized by vomiting, hypoglycemia, hepatic failure, jaundice, hepatomegaly, etc.