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

Fructose 1-Phosphate Aldolase Deficiency (Fructose Intolerance): Follow-up

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

Updated: Mar 24, 2009

Follow-up

Further Outpatient Care

  • Close dietary monitoring is important for a good outcome and should include at least semiannual visits to a biochemical geneticist and monthly meetings with a nutritionist.
  • In conjunction with transferrin isoelectric focusing (TfIEF), monitoring of increased aspartylglucosaminidase activity (AGA) could be used in the follow up of patients with hereditary fructose intolerance (HFI).5

Transfer

  • Infants, particularly young children, may be sufficiently ill to require transfer for supportive care, even after a proper diagnosis has been made. Severe acidosis and hepatocellular dysfunction carry their own rates of morbidity, independent of and despite the reversibility of hereditary fructose intolerance with treatment.

Deterrence/Prevention

  • Prolonged, albeit minor, dietary indiscretions in growing children may result in acidosis that is severe enough to impair growth.
  • Hereditary fructose intolerance is an autosomal recessive disorder. Subsequent pregnancies carry a 25% risk of recurrence. Parents and other relatives must receive genetic counseling.

Complications

  • Hypoglycemia, if sufficiently severe, may result in diminished intellectual capacity.
  • Hepatocellular damage and fibrosis may result in cirrhosis.
  • Severe metabolic acidosis may result in hypoperfusion and serious organ damage.

Prognosis

  • The prognosis is excellent for infants who receive rapid diagnosis and treatment.
  • In the absence of substantial hepatic damage, life expectancy is normal.

Patient Education

  • Parents must receive genetic counseling as part of their education in the care of the child.
  • Stress the importance of input from a nutritionist and the essential nature of a cooperative relationship in the long-term care of the child.

Miscellaneous

Medicolegal Pitfalls

  • A careful dietary history to exclude hereditary fructose intolerance (HFI) should always be obtained before a fructose hydrogen breath test is used for diagnostic purposes.

Special Concerns

  • Carefully monitor the child's growth; minor and inadvertent dietary indiscretions may lead to chronic systemic acidosis, which may affect linear growth.
 


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
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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].

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Further Reading

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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

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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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