[Congenital fructose intolerance. New molecular aspects].
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.
Larsen
K
K
Senter for klinisk molekylaermedisin, Haukeland Sykehus, Bergen.
Adnanes
O
O
Aarskog
N K
NK
Runde
I
I
Ogreid
D
D
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
D005634:Fructose-Bisphosphate Aldolase
Medfødt fruktoseintoleranse. Nye molekylaere aspekter.