Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Fructose intolerance

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.

Epidemiology

The prevalence is estimated between 1:23,000 and 1:130.000.[Error: Macro 'ref' doesn't exist]

Pathogenesis

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.

Symptoms

Proximal tubular damage syndrome
Fructose intolerance causes unspecific proximal tubular damage called renotubular Fanconi syndrome.

Systematic

Food intolerance
Adult type lactose intolerance
Eosinophil peroxidase deficiency
Fructose intolerance
ALDOB
Fructose malabsorption
Fructose-1,6-bisphosphatase deficiency
Fructosuria
Glucose-Galactose Malabsorption
Histamine Intolerance
Lactase deficiency
Lysinuric protein intolerance
Mast cell activation syndrome
Sitosterolemia
Trehalase deficiency

References:

1.

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.

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2.

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

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3.

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.

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

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

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

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

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

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

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

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11.

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

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

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

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

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

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Tolan DR et al. (1995) Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene.

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

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

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

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

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

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Edstrom CS et al. (1990) Hereditary fructose intolerance in the vomiting infant.

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

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

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

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

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

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

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41.

Rampa M et al. (1981) Eleven cases of hereditary fructose intolerance in one Swiss family with a pair of monozygotic and of dizygotic twins.

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Update: Sept. 26, 2018