Mutation analysis in Turkish patients with hereditary fructose intolerance

Thirteen Turkish patients with hereditary fructose intolerance (HFI) were s creened for the three common mutations, A149P, A174-D and N334K, in the ald olase B gene that have been detected frequently in European population. We found that nine of the patients carry the A149P mutation in both alleles, w hich corresponds to a frequency of about 55%. Single-strand conformation an alysis of all coding exons of the gene was also performed to detect unknown mutations in four patients not carrying the three common mutations. No abe rrant migration patterns were observed in these patients.