Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population

Mol Genet Metab. 2006 Apr;87(4):376-8. doi: 10.1016/j.ymgme.2005.11.010. Epub 2006 Jan 10.


We studied 28 Polish hereditary fructose intolerant (HFI) patients (26 unrelated) by direct sequencing of the ALDOB coding region/splice sites. Eight different mutations were found including two novel ones (each found in two unrelated individuals): c.250delC (frameshift) and c.522 C > G (p.Y174X). The most frequent mutation c.448 G > C (p.A150P, 67% of chromosomes) was screened for in a group of 1049 randomly selected unrelated individuals. Eight (1:131) carriers were found allowing to estimate the HFI prevalence in Poland as 1:31,000.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Fructose Intolerance / epidemiology
  • Fructose Intolerance / genetics*
  • Fructose-Bisphosphate Aldolase / genetics*
  • Heterozygote
  • Humans
  • Mutation
  • Poland / epidemiology
  • Prevalence


  • Fructose-Bisphosphate Aldolase