Fructose intolerance is an autosomal recessive disorder caused by mutations of the aldolase B gene. The disease is characterized by fructosemia and hypoglycemia trat trigger intermittend symptoms such a vomiting. In the the clinical course, liver damage may occur.
The prevalence is estimated between 1:23,000 and 1:130.000.[Error: Macro 'ref' doesn't exist]
As aldolase B is deficient in fructosemia, dietary fructose is metabolized by aldolase A that shows a much slower catabolic rate. Consequentially, fructose inhibits glycolysis and glyconeogenesis (gluconeogenesis) and hypoglycemia may occur. Intermittend cerebral symptoms and chronic liver damage ensue.
Proximal tubular damage syndrome | |
![]() |
Fructose intolerance causes unspecific proximal tubular damage called renotubular Fanconi syndrome. |
1. |
Richardson RM et al. (1979) Pathogenesis of acidosis in hereditary fructose intolerance. ![]() |
2. |
CORNBLATH M et al. (1963) HEREDITARY FRUCTOSE INTOLERANCE. ![]() |
3. |
NIKKILA EA et al. (1962) Hereditary fructose intolerance, an inborn deficiency of liver aldolase complex. ![]() |
4. |
Mandel H et al. (1990) Haemophagocytosis in hereditary fructose intolerance: a diagnostic dilemma. ![]() |
5. |
Lameire N et al. (1978) Hereditary fructose intolerance: a difficult diagnosis in the adult. ![]() |
6. |
None (1990) Hereditary fructose intolerance in the vomiting infant. ![]() |
7. |
Oberhaensli RD et al. (1987) Study of hereditary fructose intolerance by use of 31P magnetic resonance spectroscopy. ![]() |
8. |
Marks F et al. (1989) Congenital hereditary fructose intolerance and pregnancy. ![]() |
9. |
Perheentupa J et al. (1967) Fructose-induced hyperuricaemia. ![]() |
10. |
Gitzelmann R et al. (1974) Antibody activation of mutant human fructosediphosphate aldolase B in liver extracts of patients with hereditary fructose intolerance. ![]() |
11. |
Levin B et al. (1968) Fructosaemia. Observations on seven cases. ![]() |
12. |
Esposito G et al. (2002) Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. ![]() |
13. |
Rennert OM et al. (1970) Hereditary fructosemia. ![]() |
14. |
Köhlin P et al. (1968) Hereditary fructose intolerance in four Swedish families. ![]() |
15. |
Mass RE et al. (1966) The association of hereditary fructose intolerance and renal tubular acidosis. ![]() |
16. |
Raivio K et al. (1967) Aldocase activities in the liver in parents of patients with hereditary fructose intolerance. ![]() |
17. |
Odièvre M et al. (1978) Hereditary fructose intolerance in childhood. Diagnosis, management, and course in 55 patients. ![]() |
18. |
Mock DM et al. (1983) Chronic fructose intoxication after infancy in children with hereditary fructose intolerance. A cause of growth retardation. ![]() |
19. |
Cox TM et al. (1982) Pseudodominant transmission of fructose intolerance in an adult and three offspring: Heterozygote detection by intestinal biopsy. ![]() |
20. |
Rampa M et al. (1981) Eleven cases of hereditary fructose intolerance in one Swiss family with a pair of monozygotic and of dizygotic twins. ![]() |
21. |
Baerlocher K et al. (1978) Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic cases. ![]() |
22. |
LEVIN B et al. (1963) Fructosaemia: an inborn error of fructose metabolism. ![]() |
25. |
Sebastio G et al. (1991) Aldolase B mutations in Italian families affected by hereditary fructose intolerance. ![]() |
26. |
Cross NC et al. (1990) Molecular analysis of aldolase B genes in hereditary fructose intolerance. ![]() |
27. |
Esposito G et al. (2010) Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion. ![]() |
28. |
Kajihara S et al. (1990) Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene. ![]() |
29. |
Cross NC et al. (1990) Partial aldolase B gene deletions in hereditary fructose intolerance. ![]() |
30. |
Cross NC et al. (1989) Molecular analysis of aldolase B genes in the diagnosis of hereditary fructose intolerance in the United Kingdom. ![]() |
31. |
Paolella G et al. (1987) Mapping of a restriction fragment length polymorphism within the human aldolase B gene. ![]() |
32. |
Cross NC et al. (1988) Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. ![]() |
33. |
Nordmann Y et al. (1968) A structurally modified liver aldolase in fructose intolerance: immunological and kinetic evidence. ![]() |
34. |
Kranhold JF et al. (1969) Renal fructose-metabolizing enzymes: significance in hereditary fructose intolerance. ![]() |
35. |
Ali M et al. (1995) Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance. ![]() |
36. |
Ali M et al. (1994) Null alleles of the aldolase B gene in patients with hereditary fructose intolerance. ![]() |
37. |
None (1995) Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene. ![]() |
38. |
Jaeken J et al. (1996) Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance. ![]() |
39. |
Ali M et al. (1998) Hereditary fructose intolerance. ![]() |
40. |
Steinmann B et al. (1981) The diagnosis of hereditary fructose intolerance. ![]() |
41. |
WOLF H et al. (1959) [Congenital hereditary fructose intolerance]. ![]() |
42. |
FROESCH ER et al. (1963) Hereditary fructose intolerance. An inborn defect of hepatic fructose-1-phosphate splitting aldolase. ![]() |
43. |
OMIM.ORG article Omim 229600![]() |
44. |
Wikipedia article Wikipedia EN (Fructose_intolerance)![]() |