A Review of Hereditary Fructose Intolerance

Open access


Fructose intolerance is a metabolic disorder with hereditary determinism, clinically manifested on terms of fructose intake. Untreated, hereditary fructose intolerance may result in renal and hepatic failure. Unfortunately, there are no formal diagnostic and surveillance guidelines for this disease. If identified and treated before the occurrence of permanent organ damage, patients can improve their symptoms and self-rated health. Implementation and adherence to a strict fructose free diet is often difficult, but not impossible.

1. *** HFI laboratory at Boston University - Welcome to the HFI laboratory website [Screens 30]. Available online at: http://www.bu.edu/aldolase/HFI/ Accessed June 30th, 2001.

2. Pagon RA, Adam MP, Ardinger HH et al. Hereditary fructose intolerance. Gene Reviews [Internet]. Seattle (WA): University of Washington, Seattle; 2015. Available online at : http://www.ncbi.nlm.nih.gov/books/NBK333439/#hfi.Chapter_Notes Accessed: December 19th, 2015.

3. Cox TM. Inborn errors of fructose metabolism. In: Oxford Textbook of Medicine, 3 rd ed. Weatherall DJ, Ledingham JGG, Warrel DA (ed). Oxford University Press, Oxford, pp 1345-49, 1996.

4. Richardson RM, Little JA, Patten RL, Goldstein MB, Halperin ML. Pathogenesis of acidosis in hereditary fructose intolerance. Metabolism 28: 1133-1138, 1979.

5. Ali M, Rellos P, Cox TM. Hereditary fructose intolerance. J Med Genet 35: 353-365, 1998.

6. Gitzelman R, Steinmann B, Van den Berghe G. Essential fructosuria, hereditary fructose intolerance, and fructose-1,6-bisphosphatase deficiency. In Metabolic basis of inherited diseases. Stanbury JB et al (ed). The Blakiston Division, McGraw-Hill Book Company, Inc., New York, Toronto, and London, pp 118-140, 1983.

7. Henry RR, Crapo PA. Current issues in fructose metabolism. Annu Rev Nutr 11: 21-39, 1991.

8. Rumping L, Waterham HR, Kok I, van Hasselt PM, Visser G. Hereditary fructose intolerance. [Article in Dutch]. Ned Tijdschr Geneeskd 158: A6889, 2014.

9. Escobar MA Jr, Lustig D, Pflugeisen BM et al. Fructose intolerance/malabsorption and recurrent abdominal pain in children. J Pediatr Gastroenterol Nutr 58: 498-501, 2014.

10. Erdogan A, Adame EC, Yu S, Rattanakovit K, Rao SS. Optimal testing for diagnosis of fructose intolerance: Over-dosage leads to false positive intolerance test. J Neurogastroenterol Motil 20: 560, 2014.

11. Sachs M, Asskali F, Encke A, Förster H. Metabolic changes in patients with hereditary fructose intolerance. A contribution to the topic of fructose administration for parenteral feeding. [Article in German]. Med Klin (Munich) 86: 574-581, 1991.

12. Bijarnia-Mahay S, Movva S, Gupta N et al. Molecular diagnosis of hereditary fructose intolerance: Founder mutation in a community from India. JIMD Rep 19: 85-93, 2015.

13. Gamblin SJ, Davies GJ, Grimes JM, Jackson RM, Littlechild JA, Watson HC. Activity and specificity of human aldolases. J Mol Biol 219: 573-576, 1991.

14. Cox TM. Fructose intolerance: heredity and the environment. In Genetics and Human Nutrition. Randle PJ, Bell JI, Scott J (ed). John Libbey, London, pp 81-92, 1990

15. Hamilton Health Sciences, McMaster Children’s Hospital. Your child’s diet with Dietary Fructose Intolerance (DFI). Available online at : http://www.hamiltonhealthsciences.ca/documents/Patient%20Education/DFI-trh.pdf Accessed: December 15th, 2015

16. Steinmann B, Gitzelmann R, Van den Berghe G. Disorders of Fructose Metabolism. In The Metabolic and Molecular Basis of Inherited Disease. Scriver C, Beaudet A, Sly W, Valle D. (ed). McGraw-Hill Inc, New York, pp 1489-1520, 2001.

17. Bonfrate L, Krawczyk M, Lembo A, Grattagliano I, Lammert F, Portincasa P. Effects of dietary education, followed by a tailored fructose-restricted diet in adults with fructose malabsorption. Eur J Gastroenterol Hepatol 27: 785-796, 2015.

Romanian Journal of Diabetes Nutrition and Metabolic Diseases

The Journal of Romanian Society of Diabetes Nutrition and Metabolic Diseases

Journal Information

CiteScore 2017: 0.11

SCImago Journal Rank (SJR) 2017: 0.122
Source Normalized Impact per Paper (SNIP) 2017: 0.077


All Time Past Year Past 30 Days
Abstract Views 0 0 0
Full Text Views 178 178 32
PDF Downloads 45 45 14