Hereditary fructose intolerance: A comprehensive review

Abstract

Hereditary fructose intolerance (HFI) is a rare autosomal recessive inherited disorder that occurs due to the mutation of enzyme aldolase B located on chromosome 9q22.3. A fructose load leads to the rapid accumulation of fructose 1-phosphate and manifests with its downstream effects. Most commonly children are affected with gastrointestinal symptoms, feeding issues, aversion to sweets and hypoglycemia. Liver manifestations include an asymptomatic increase of transaminases, steatohepatitis and rarely liver failure. Renal involvement usually occurs in the form of proximal renal tubular acidosis and may lead to chronic renal insufficiency. For confirmation, a genetic test is favored over the measurement of aldolase B activity in the liver biopsy specimen. The crux of HFI management lies in the absolute avoidance of foods containing fructose, sucrose, and sorbitol (FSS). There are many dilemmas regarding tolerance, dietary restriction and occurrence of steatohepatitis. Patients with HFI who adhere strictly to FSS free diet have an excellent prognosis with a normal lifespan. This review attempts to increase awareness and provide a comprehensive review of this rare but treatable disorder.

Keywords: Hereditary; Fructose; Intolerance; Children; Liver; Steatohepatitis; Aldolase

Core Tip: Hereditary Fructose Intolerance is a rare autosomal recessive inherited disorder due to the mutation of enzyme aldolase B. Awareness regarding its diverse manifestations is required to clinically suspect and diagnose this condition. Genetic testing clinches the diagnosis. Treatment is simple and involves only the dietary exclusion of fructose, sucrose and sorbitol. The prognosis is favourable. This review provides a comprehensive understanding of the disease.