THE MOLECULAR-BASIS OF HEREDITARY FRUCTOSE INTOLERANCE IN ITALIAN CHILDREN

We investigated the molecular defects of the aldolase B gene in five u nrelated patients affected by hereditary fructose intolerance. The tec hniques used were DNA amplification, direct sequencing and allele-spec ific oligonucleotide (ASO) hybridization. The most frequent substituti ons found in the hereditary fructose intolerance alleles analysed were the A174D and the A149P mutations, which account for 50% and 30% of t he alleles, respectively. In two unrelated families, we found a rare m utation, the MDA4 previously described only in one British family, whi ch may be an important cause of the disease in Italy.