Moinak Sen Sarma, MD, Associate Professor, Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, India. moinaksen@yahoo.com
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Minireviews
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Pediatr. Jul 9, 2022; 11(4): 321-329 Published online Jul 9, 2022. doi: 10.5409/wjcp.v11.i4.321
Hereditary fructose intolerance: A comprehensive review
Sumit Kumar Singh, Moinak Sen Sarma
Sumit Kumar Singh, Department of Pediatrics, Sri Aurobindo Medical College and PGI, Indore 453555, Madhya Pradesh, India
Moinak Sen Sarma, Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, India
Author contributions: Sarma MS conception, final drafting of the manuscript; Singh SK conception, primary drafting of the manuscript.
Conflict-of-interest statement: All the authors declare that they have no conflict of interest.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Moinak Sen Sarma, MD, Associate Professor, Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, India. moinaksen@yahoo.com
Received: November 27, 2021 Peer-review started: November 27, 2021 First decision: April 13, 2022 Revised: May 8, 2022 Accepted: June 20, 2022 Article in press: June 20, 2022 Published online: July 9, 2022 Processing time: 220 Days and 20.5 Hours
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.
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.
