eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases

Fructose 1-Phosphate Aldolase Deficiency (Fructose Intolerance): Treatment & Medication

Author: Karl S Roth, MD, Professor and Chair, Department of Pediatrics, Creighton University School of Medicine
Contributor Information and Disclosures

Updated: Mar 24, 2009

Treatment

Medical Care

Definitive treatment simply consists of eliminating fructose from the diet. Eliminating fructose early in the disease course totally restores the affected child's health within days, with no residua. However, hepatomegaly may require months to resolve. Prolonged delay in diagnosis may result in cirrhotic changes with subsequent degeneration of function.

Consultations

When appropriate, consult a biochemical geneticist and a nutritionist.

Diet

Appropriate treatment consists of elimination of fructose, sorbitol, and sucrose sources, such as fruits and table sugar. Unsuspected sources of these sugars abound. For example, potatoes that are prepared a certain way provide a significant amount of fructose. For this reason, a highly trained nutritionist's input is mandatory to properly maintain the health of individuals with this disorder.

Medication

Drug therapy is not a component of the standard of care for this condition. See Treatment.

More on Fructose 1-Phosphate Aldolase Deficiency (Fructose Intolerance)

Overview: Fructose 1-Phosphate Aldolase Deficiency (Fructose Intolerance)
Differential Diagnoses & Workup: Fructose 1-Phosphate Aldolase Deficiency (Fructose Intolerance)
Treatment & Medication: Fructose 1-Phosphate Aldolase Deficiency (Fructose Intolerance)
Follow-up: Fructose 1-Phosphate Aldolase Deficiency (Fructose Intolerance)
Multimedia: Fructose 1-Phosphate Aldolase Deficiency (Fructose Intolerance)
References

References

  1. 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. Jun 2005;25(6):594. [Medline].

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

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

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

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

  6. Ali M, Rellos P, Cox TM. Hereditary fructose intolerance. J Med Genet. May 1998;35(5):353-65. [Medline].

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

  8. 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.

  9. 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. Feb 1963;34:151-67. [Medline].

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

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

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

  13. Perheentupa J, Raivio K. Fructose-induced hyperuricaemia. Lancet. Sep 9 1967;2(7515):528-31. [Medline].

  14. Steinmann B, Gitzelmann R. The diagnosis of hereditary fructose intolerance. Helv Paediatr Acta. Sep 1981;36(4):297-316. [Medline].

Further Reading

Keywords

fructose 1-phosphate aldolase deficiency, hereditary fructose intolerance, HFI, fructosemia, fructose 1,6-bisphosphate aldolase B deficiency, aldolase B deficiency, F-1-P, vomiting, hypoglycemia, failure to thrive, cachexia, hepatomegaly, jaundice, coagulopathy, severe metabolic acidosis, lactic acidosis, coma, renal Fanconi syndrome, hyperuricemia, lactic acidemia, proximal tubular acidosis, aminoaciduria, glucosuria, phosphaturia, renal tubular acidosis, non–glucose-reducing sugar, elimination of fructose, dietary history, renal tubule dysfunction

Contributor Information and Disclosures

Author

Karl S Roth, MD, 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 Clinical Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, Society for Pediatric Research, and Southern Society for Pediatric Research
Disclosure: Nothing to disclose.

Medical Editor

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
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

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 and American College of Medical Genetics
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics and Rehabilitation, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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