Literature DB >> 16406649

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

Jakub Gruchota1, Ewa Pronicka, Lech Korniszewski, Bartosz Stolarski, Agnieszka Pollak, Małgorzata Rogaszewska, Rafał Płoski.   

Abstract

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.

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Year:  2006        PMID： 16406649     DOI： 10.1016/j.ymgme.2005.11.010

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  8 in total

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Review 4.  Estimation of hereditary fructose intolerance prevalence in the Chinese population.

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Journal:  Mol Genet Metab Rep       Date:  2015-06-15

8.  Hereditary Fructose Intolerance Diagnosed in Adulthood.

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Journal:  Gut Liver       Date:  2021-01-15       Impact factor: 4.519
  8 in total

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