Pediatria pre prax 5/2022

Hereditary fructose intolerance

Hereditary fructose intolerance (HFI) is an autosomal recessive disease in metabolism of fructose caused by a deficiency of the enzyme aldolase B (fructose 1-phosphate aldolase). The symptoms typically appear after consuming food containing fructose, sucrose or sorbitol (sorbitol is metabolized to fructose in the body), i.e. most often in infants after the introduction of their first fruit snacks or after the administration of liquids containing sucrose or honey. Clinical manifestation – vomiting, abdominal pain, disturbances of consciousness up to coma are caused by hypoglycemia and metabolic acidosis. If untreated, ingestion of fructose in a patient with HFI can leads to hepato-renal failure and of left untreated, to death. Chronic exposure to fructose in patients affected by a mild form of the disease leads to abdominal pain, failure to thrive, hepatopathy and kidney damage in the sense of proximal tubulopathy with a typical clinical picture of Fanconi syndrome. A natural aversion to a fructose-containing foods lead to a significantly reduced incidence of dental caries in patients with HFI. Treatment based on a diet which excludes fructose, sucrose and sorbitol will improve growth and prevent serious metabolic crises.

Keywords: hereditary fructose intolerance, fructose, hypoglycemia, diet