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  • Title: [Congenital fructose intolerance. New molecular aspects].
    Author: Larsen K, Adnanes O, Aarskog NK, Runde I, Ogreid D.
    Journal: Tidsskr Nor Laegeforen; 1994 Nov 20; 114(28):3312-4. PubMed ID: 7809888.
    Abstract:
    Hereditary fructose intolerance is a human autosomal recessive disease caused by a deficiency of aldolase B that results in an inability to metabolize fructose and related sugars. Molecular analyses have shown that most defects are caused by point mutations in critical regions of the aldolase B gene. We have performed PCR-based DNA analysis of members of two Norwegian families with hereditary fructose intolerance. The affected individuals from both families contained a point mutation (A149P) in exon 5 of the aldolase B gene. Molecular diagnosis of fructose intolerance is rapid and specific, and causes no inconvenience to the patient. It should be preferred to conventional fructose intolerance tests and visceral biopsy analyses.
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