Fructose Intolerance, Hereditary

Key Features

• An autosomal recessive disorder in which deficient activity of fructose-1-phosphate aldolase causes hypoglycemia and tissue accumulation of fructose-1-phosphate on fructose ingestion

• Can progress to death from liver failure if left untreated

Clinical Findings

• Failure to thrive

• Vomiting

• Jaundice

• Hepatomegaly

• Proteinuria

• Renal Fanconi syndrome

Diagnosis

• Finding fructosuria or an abnormal transferrin glycoform in the untreated patient suggests diagnosis

• Diagnosis is made by sequencing the HFI gene

• Enzyme assay of fructose-1-phosphate aldolase in liver biopsy is alternative method for diagnosis

Treatment

• Strict dietary avoidance of fructose

• Vitamin supplementation is usually needed

• Drugs and vitamins dispensed in a sucrose base should be avoided