Hereditary fructose intolerance: a not so rare cause of childhood liver disease - case report
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Abstract
Introdução: Hereditary fructose intolerance (HFI) is a rare disease characterized by deficiency of aldolase B enzyme due to mutations in ALDOB gene. It usually manifests as hypoglycemia after ingestion of foods or compounds containing fructose. Early diagnosis and fructose-restricted diet are essential to avoid clinical complications and irreversible sequelae. Case report: Here we report a 6-month--old patient who was admitted to a hospital with hypoglycemia after ingestion for the first time of a juice fruit. Abdominal ultrasound and magnetic resonance imaging were performed and showed liver steatosis. Clinical picture was highly suggestive of HFI, so ALDOB gene was requested for the patient. Gene analysis showed presence of two heterozygous mutations, inherited from each parent thus confirming the clinical diagnosis of HFI. Conclusion: The case report
intends to reinforce the clinical and laboratory importance in the diagnosis of HFI as well as the clinical outcome and the importance of diet therapy in its treatment.
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