eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases
Fructose 1-Phosphate Aldolase Deficiency (Fructose Intolerance): Treatment & Medication
Updated: Mar 24, 2009
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
- Multimedia
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 |
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References
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].
Tsampalieros A, Beauchamp J, Boland M, Mack DR. Dietary fructose intolerance in children and adolescents. Arch Dis Child. Dec 2008;93(12):1078. [Medline].
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].
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].
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].
Ali M, Rellos P, Cox TM. Hereditary fructose intolerance. J Med Genet. May 1998;35(5):353-65. [Medline].
Chambers RA, Pratt RTC. Idiosyncrasy to fructose. Lancet. 1956;2:340.
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.
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].
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].
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].
Muller P, Meier C, Bohme HJ. Fructose breath hydrogen test - is it really a harmless diagnostic procedure?. Dig Dis. 2003;21:276-278.
Perheentupa J, Raivio K. Fructose-induced hyperuricaemia. Lancet. Sep 9 1967;2(7515):528-31. [Medline].
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
Treatment & Medication: Fructose 1-Phosphate Aldolase Deficiency (Fructose Intolerance)