title: [Congenital fructose intolerance. New molecular aspects].
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.
authors: Senter for klinisk molekylaermedisin, Haukeland Sykehus, Bergen.
authors: K
authors: K
authors: Larsen
authors: O
authors: O
authors: Adnanes
authors: N K
authors: NK
authors: Aarskog
authors: I
authors: I
authors: Runde
authors: D
authors: D
authors: Ogreid
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D005633:Fructose Intolerance / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D005634:Fructose-Bisphosphate Aldolase / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D008967:Molecular Biology; D017354:Point Mutation
chemical_list: D005634:Fructose-Bisphosphate Aldolase
vernacular_title: Medfødt fruktoseintoleranse. Nye molekylaere aspekter.