Fructose-1-Phosphate Aldolase Deficiency

Fructose 1-phosphate aldolase deficiency or hereditary fruc­tose intol­er­ance (HFI) is an auto­so­mal reces­sive dis­order, caused by the deficiency in aldolase B (fructose-1, 6-bisphosphate aldolase), an enzyme responsible for the cleavage of fructose-1-phosphate. HFI is a metabolic disorder that usually manifests around 4-6 months of age when weaning is started. The inheritance pattern is autosomal recessive, and there is a 25% chance of having a child with HFI if both parents are heterozygotes. The mainstay of treatment is the dietary restriction of fructose, sorbitol, and sucrose. Life expectancy is normal in these individuals if appropriate precautionary measures are taken. The disorder leads to a toxic accumulation of fructose-1-phosphate in the liver and renal tubules.