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Hereditary fructose intolerance: A comprehensive review

Sumit Kumar Singh1, Moinak Sen Sarma2

  • 1Department of Pediatrics, Sri Aurobindo Medical College and PGI, Indore 453555, Madhya Pradesh, India.

World Journal of Clinical Pediatrics
|September 2, 2022
PubMed

Insights

Hereditary fructose intolerance (HFI) is a rare genetic disorder caused by aldolase B deficiency. Strict avoidance of fructose, sucrose, and sorbitol (FSS) is crucial for managing HFI and ensuring a normal lifespan.

Area of Science:

  • Genetics
  • Metabolic disorders
  • Pediatrics

Background:

  • Hereditary fructose intolerance (HFI) is a rare autosomal recessive disorder.
  • It results from mutations in the aldolase B gene on chromosome 9q22.3.
  • Fructose metabolism disruption leads to toxic accumulation of fructose 1-phosphate.

Purpose of the Study:

  • To provide a comprehensive review of hereditary fructose intolerance.
  • To increase awareness of this rare but treatable genetic disorder.
  • To discuss management strategies and clinical manifestations.

Main Methods:

  • Literature review of hereditary fructose intolerance.
  • Analysis of clinical manifestations and diagnostic approaches.
  • Evaluation of dietary management and long-term outcomes.

Main Results:

  • HFI commonly affects children with gastrointestinal symptoms, feeding issues, hypoglycemia, and aversion to sweets.
  • Liver involvement includes elevated transaminases, steatohepatitis, and potential liver failure.
  • Renal manifestations involve proximal renal tubular acidosis, possibly leading to chronic renal insufficiency.

Conclusions:

  • Genetic testing is preferred for diagnosing HFI over measuring aldolase B activity.
  • Absolute avoidance of fructose, sucrose, and sorbitol (FSS) is the cornerstone of HFI management.
  • Strict adherence to an FSS-free diet leads to an excellent prognosis and normal lifespan for HFI patients.

Keywords:
AldolaseChildrenFructoseHereditaryIntoleranceLiverSteatohepatitis

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