Hereditary Fructose Intolerance (HFI) (Fructose 1-Phosphate Aldolase Deficiency) Differential Diagnoses

1. Li H, Byers HM, Diaz-Kuan A, Vos MB, Hall PL, Tortorelli S, et al. Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas. Mol Genet Metab. 2018 Apr. 123 (4):428-432. [QxMD MEDLINE Link].

2. Kim Y, Park SC, Wolf BW, Hertzler SR. Combination of erythritol and fructose increases gastrointestinal symptoms in healthy adults. Nutr Res. 2011 Nov. 31(11):836-41. [QxMD MEDLINE Link].

3. Morris M, Araujo IC, Pohlman RL, Marques MC, Rodwan NS, Farah VM. Timing of fructose intake: an important regulator of adiposity. Clin Exp Pharmacol Physiol. 2012 Jan. 39(1):57-62. [QxMD MEDLINE Link].

4. Latulippe ME, Skoog SM. Fructose malabsorption and intolerance: effects of fructose with and without simultaneous glucose ingestion. Crit Rev Food Sci Nutr. 2011 Aug. 51(7):583-92. [QxMD MEDLINE Link].

5. Demirbas D, Brucker WJ, Berry GT. Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine. Pediatr Clin North Am. 2018 Apr. 65 (2):337-352. [QxMD MEDLINE Link].

6. Oppelt SA, Sennott EM, Tolan DR. Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans. Mol Genet Metab. 2015 Mar. 114 (3):445-50. [QxMD MEDLINE Link].

7. Santer R, Rischewski J, von Weihe M, Niederhaus M, Schneppenheim S, Baerlocher K, et al. The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. Hum Mutat. 2005 Jun. 25(6):594. [QxMD MEDLINE Link].

8. Choi HW, Lee YJ, Oh SH, Kim KM, Ryu JM, Lee BH, et al. A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance. Gut Liver. 2012 Jan. 6(1):126-8. [QxMD MEDLINE Link]. [Full Text].

9. Tsampalieros A, Beauchamp J, Boland M, Mack DR. Dietary fructose intolerance in children and adolescents. Arch Dis Child. 2008 Dec. 93(12):1078. [QxMD MEDLINE Link].

10. Yasawy MI, Folsch UR, Schmidt WE, Schwend M. Adult hereditary fructose intolerance. World J Gastroenterol. 2009 May 21. 15(19):2412-3. [QxMD MEDLINE Link]. [Full Text].

11. Gomara RE, Halata MS, Newman LJ, et al. Fructose intolerance in children presenting with abdominal pain. J Pediatr Gastroenterol Nutr. 2008 Sep. 47(3):303-8. [QxMD MEDLINE Link].

12. Coffee EM, Tolan DR. Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. J Inherit Metab Dis. 2010 Dec. 33(6):715-25. [QxMD MEDLINE Link]. [Full Text].

13. Tolan DR. Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene. Hum Mutat. 1995. 6(3):210-8. [QxMD MEDLINE Link].

14. Wasserman D, Hoekstra JH, Tolia V, et al. Molecular analysis of the fructose transporter gene(GLUT5) in isolated fructose malabsorption. J Clin Invest. November 1996. 98:2398-2402. [QxMD MEDLINE Link].

15. Michelakakis H, Moraitou M, Mavridou I, Dimitriou E. Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia. Clin Chim Acta. 2009 Mar. 401(1-2):81-3. [QxMD MEDLINE Link].

16. Ali M, Rellos P, Cox TM. Hereditary fructose intolerance. J Med Genet. 1998 May. 35(5):353-65. [QxMD MEDLINE Link].

17. Chambers RA, Pratt RTC. Idiosyncrasy to fructose. Lancet. 1956. 2:340.

18. Froesch ER, Prader A, Labhart A, Stuber HW, Wolf HP. Die hereditare Fructoseintoleranz, eine bisher nicht bekannte kongenitale Stoffwechselstorung. Schweiz Med Wochenschr. 1957. 87:1168-1171.

19. Froesch ER, Wolf HP, Baitsch H, Prader A, Labhart A. Hereditary fructose intolerance. An inborn defect of hepatic fructose-1-phosphate splitting aldolase. Am J Med. 1963 Feb. 34:151-67. [QxMD MEDLINE Link].

20. Levin B, Oberholzer VG, Snodgrass GJAI, Stimmler L, Wilmers MJ. Fructosaemia. An inborn error of fructose metabolism. Arch Dis Child. 1963 Jun. 38:220-30. [QxMD MEDLINE Link].

21. Mass RE, Smith WR, Walsh JR. The association of hereditary fructose intolerance and renal tubular acidosis. Am J Med Sci. 1966 May. 251(5):516-23. [QxMD MEDLINE Link].

22. Muller P, Meier C, Bohme HJ. Fructose breath hydrogen test - is it really a harmless diagnostic procedure?. Dig Dis. 2003. 21:276-278.

23. Perheentupa J, Raivio K. Fructose-induced hyperuricaemia. Lancet. 1967 Sep 9. 2(7515):528-31. [QxMD MEDLINE Link].

24. Steinmann B, Gitzelmann R. The diagnosis of hereditary fructose intolerance. Helv Paediatr Acta. 1981 Sep. 36(4):297-316. [QxMD MEDLINE Link].

25. Jones HF, Butler RN, Moore DJ, et al. Developmental changes and fructose absoprtion in children: effect on malabsorption testing and dietary management. Nutr Rev. May 2013. 71:300-309. [QxMD MEDLINE Link].

26. Escobar MA Jr., Lustig D, Pflugeisen BM, et al. Fructose intolerance/malabsorption and recurrent abdominal pain in children. J Pediatr Gastroenterol Nutr. April 2014. 58:498-501. [QxMD MEDLINE Link].

27. Douard V, Ferraris RP. The role of fructose transporters in diseases linked to excessive fructose intake. J Physiol. February 2013. 591:401-414. [QxMD MEDLINE Link].

Karl S Roth, MD Retired Professor and Chair, Department of Pediatrics, Creighton University School of Medicine

Karl S Roth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Pediatric Society, American Society for Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, The Scientific Research Honor Society, Society for Pediatric Research, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Michael Fasullo, PhD Senior Scientist, Ordway Research Institute; Associate Professor, State University of New York at Albany; Adjunct Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College

Michael Fasullo, PhD is a member of the following medical societies: Radiation Research Society, American Society for Biochemistry and Molecular Biology, Genetics Society of America, Environmental Mutagenesis and Genomics Society

Disclosure: Nothing to disclose.

David Flannery, MD, FAAP, FACMG Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia

David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

• Print this section
• Print the entire contents of
• Print the entire contents of article