Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Fruktoseintoleranz

Die Fruktoseintoleranz ist eine autosomal rezessive Erkrankung die durch Mutationen des Gen der Aldolase B hervorgerufen wird. Die Erkrankung ist durch Fructosämie, Hypoglykämie und rezidivierenden Allgemeinsymptomen, wie Erbrechen gekennzeichnet. Im späteren Verlauf können sich Leberschäden einstellen.

Epidemiologie

Die Häufigkeit wird mit 1:23.000 bis 1:130.000 angegeben.[Error: Macro 'ref' doesn't exist]

Pathogenese

Das beim Aldolase B-Mangel die Verstoffwechselung der alimentären Fruktose über die langsamere Aldolase A erfolgen muss, kommt es zur Fructosämie. Die Fructose wiederum hemmt die Gluconeogenese und die Glycolyse, so können schwere Hypoklykämien auftreten. Diese Dysbalance des Stoffwechsels kann zu intermittierenden zerebralem Glucosemangel und damit zu akuten Allgemeinsymptomen und chronischen Leberschäden führen.

Symptome

Proximaler Tubulusschaden
Fruktoseintoleranz ruft einen unspezifischen Nierenschaden hervor der als renotubuläres Fanconi-Syndrom bezeichnet wird.

Gliederung

Lebensmittelunverträglichkeiten
Eosinophile Peroxidase-Mangel
Erwachsenentyp der Laktoseintoleranz
Fruktose Malabsorption
Fruktose-1,6-Bisphosphatase-Mangel
Fruktoseintoleranz
ALDOB
Fruktosurie
Glucose-Galactose-Malabsorption
Histamin-Intoleranz
Lactasemangel
Lysinurische Proteinintoleranz
Mastzell-Aktivierungs-Syndrom
Sitosterolämia
Trehalasemangel

Referenzen:

1.

Richardson RM et al. (1979) Pathogenesis of acidosis in hereditary fructose intolerance.

external link
2.

CORNBLATH M et al. (1963) HEREDITARY FRUCTOSE INTOLERANCE.

external link
3.

NIKKILA EA et al. (1962) Hereditary fructose intolerance, an inborn deficiency of liver aldolase complex.

external link
4.

Mandel H et al. (1990) Haemophagocytosis in hereditary fructose intolerance: a diagnostic dilemma.

external link
5.

Lameire N et al. (1978) Hereditary fructose intolerance: a difficult diagnosis in the adult.

external link
6.

None (1990) Hereditary fructose intolerance in the vomiting infant.

external link
7.

Oberhaensli RD et al. (1987) Study of hereditary fructose intolerance by use of 31P magnetic resonance spectroscopy.

external link
8.

Marks F et al. (1989) Congenital hereditary fructose intolerance and pregnancy.

external link
9.

Perheentupa J et al. (1967) Fructose-induced hyperuricaemia.

external link
10.

Gitzelmann R et al. (1974) Antibody activation of mutant human fructosediphosphate aldolase B in liver extracts of patients with hereditary fructose intolerance.

external link
11.

Levin B et al. (1968) Fructosaemia. Observations on seven cases.

external link
12.

Esposito G et al. (2002) Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.

external link
13.

Rennert OM et al. (1970) Hereditary fructosemia.

external link
14.

Köhlin P et al. (1968) Hereditary fructose intolerance in four Swedish families.

external link
15.

Mass RE et al. (1966) The association of hereditary fructose intolerance and renal tubular acidosis.

external link
16.

Raivio K et al. (1967) Aldocase activities in the liver in parents of patients with hereditary fructose intolerance.

external link
17.

Odièvre M et al. (1978) Hereditary fructose intolerance in childhood. Diagnosis, management, and course in 55 patients.

external link
18.

Mock DM et al. (1983) Chronic fructose intoxication after infancy in children with hereditary fructose intolerance. A cause of growth retardation.

external link
19.

Cox TM et al. (1982) Pseudodominant transmission of fructose intolerance in an adult and three offspring: Heterozygote detection by intestinal biopsy.

external link
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.

external link
21.

Baerlocher K et al. (1978) Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic cases.

external link
22.

LEVIN B et al. (1963) Fructosaemia: an inborn error of fructose metabolism.

external link
23.

Santamaria R et al. () Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications.

external link
24.

Davit-Spraul A et al. (2008) Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.

external link
25.

Sebastio G et al. (1991) Aldolase B mutations in Italian families affected by hereditary fructose intolerance.

external link
26.

Cross NC et al. (1990) Molecular analysis of aldolase B genes in hereditary fructose intolerance.

external link
27.

Esposito G et al. (2010) Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.

external link
28.

Kajihara S et al. (1990) Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene.

external link
29.

Cross NC et al. (1990) Partial aldolase B gene deletions in hereditary fructose intolerance.

external link
30.

Cross NC et al. (1989) Molecular analysis of aldolase B genes in the diagnosis of hereditary fructose intolerance in the United Kingdom.

external link
31.

Paolella G et al. (1987) Mapping of a restriction fragment length polymorphism within the human aldolase B gene.

external link
32.

Cross NC et al. (1988) Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.

external link
33.

Nordmann Y et al. (1968) A structurally modified liver aldolase in fructose intolerance: immunological and kinetic evidence.

external link
34.

Kranhold JF et al. (1969) Renal fructose-metabolizing enzymes: significance in hereditary fructose intolerance.

external link
35.

Ali M et al. (1995) Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance.

external link
36.

Ali M et al. (1994) Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.

external link
37.

None (1995) Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene.

external link
38.

Jaeken J et al. (1996) Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.

external link
39.

Ali M et al. (1998) Hereditary fructose intolerance.

external link
40.

Steinmann B et al. (1981) The diagnosis of hereditary fructose intolerance.

external link
41.

WOLF H et al. (1959) [Congenital hereditary fructose intolerance].

external link
42.

FROESCH ER et al. (1963) Hereditary fructose intolerance. An inborn defect of hepatic fructose-1-phosphate splitting aldolase.

external link
43.

OMIM.ORG article

Omim 229600 external link
44.

Wikipedia Artikel

Wikipedia DE (Fruktoseintoleranz) external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz