Rare Disease Database

Synonyms

• Fructose-1-phosphate aldolase deficiency
• ALDOB deficiency
• Aldolase B deficiency
• Fructose-1,6-bisphosphate aldolase B deficiency
• Fructose intolerance, hereditary

Overview

Hereditary fructose intolerance (HFI) is a metabolic disease caused by the absence of an enzyme called aldolase B. In people with HFI, ingestion of fructose (fruit sugar) and sucrose (cane or beet sugar, table sugar) causes severe hypoglycemia (low blood sugar) and the build up of dangerous substances in the liver. HFI may be relatively mild or a very severe disease.[974] The condition is caused by mutations in the ALDOB gene. It is inherited in an autosomal recessive pattern.[9517] Treatment involves eliminating fructose and sucrose from the diet. In the severe form, eliminating these sugars from the diet may not prevent progressive liver disease.[974]

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