Case Report
Copyright ©2009 The WJG Press and Baishideng. All rights reserved.
World J Gastroenterol. May 21, 2009; 15(19): 2412-2413
Published online May 21, 2009. doi: 10.3748/wjg.15.2412
Adult hereditary fructose intolerance
Mohamed Ismail Yasawy, Ulrich Richard Folsch, Wolfgang Eckhard Schmidt, Michael Schwend
Mohamed Ismail Yasawy, Ulrich Richard Folsch, Wolfgang Eckhard Schmidt, Michael Schwend, Department of Internal Medicine, Christian-Albrechts-University of Kiel, Schittenhelmstrasse 12, D-24105 Kiel, Germany
Author contributions: Yasawy MI was responsible for the fructose tolerance test, analysis of the references obtained from literature search and final write-up of the paper; Folsch UR offered the case; Schmidt WE was responsible for DNA test; Schwend M was responsible for literature search and collected the relevant references related to the case.
Correspondence to: Dr. Mohamed Ismail Yasawy, Associate Professor, Consultant Internist/Gastroenterologist, Department of Internal Medicine, King Fahd Hospital of the University, PO Box 40143, Al-Khobar 31952, Saudi Arabia. yasawy@yahoo.com
Telephone: +966-3-8966741
Fax: +966-3-8966741
Received: September 15, 2008
Revised: April 15, 2009
Accepted: April 22, 2009
Published online: May 21, 2009
Abstract

Hereditary fructose intolerance (HFI) is an under-recognized, preventable life-threatening condition. It is an autosomal recessive disorder with subnormal activity of aldolase B in the liver, kidney and small bowel. Symptoms are present only after the ingestion of fructose, which leads to brisk hypoglycemia, and an individual with continued ingestion will exhibit vomiting, abdominal pain, failure to thrive, and renal and liver failure. A diagnosis of HFI was made in a 50-year-old woman on the basis of medical history, response to IV fructose intolerance test, demonstration of aldolase B activity reduction in duodenal biopsy, and molecular analysis of leukocyte DNA by PCR showed homozygosity for two doses of mutant gene. HFI may remain undiagnosed until adult life and may lead to disastrous complications following inadvertent fructose or sorbitol infusion. Several lethal episodes of HFI following sorbitol and fructose infusion have been reported. The diagnosis can only be suspected by taking a careful dietary history, and this can present serious complications.

Keywords: Adults, Fructose intolerance, Diet, Fructose, Sorbitol