The Molecular Basis of Hereditary Fructose Intolerance in Italian Children)

Rita Santamaria, Maria Irene Scarano, Gabriella Esposito, L. Chiandetti, Paola Izzo, F. Salvatore

Research output: Contribution to journalArticlepeer-review


We investigated the molecular defects of the aldolase B gene in five unrelated patients affected by hereditary fructose intolerance. The techniques used were DNA amplification, direct sequencing and allele-specific oligonucleotide (ASO) hybridization. The most frequent substitutions found in the hereditary fructose intolerance alleles analysed were the A174D and the A149P mutations, which account for 50% and 30% of the alleles, respectively. In two unrelated families, we found a rare mutation, the MDA4 previously described only in one British family, which may be an important cause of the disease in Italy.

Original languageEnglish
Pages (from-to)675-678
Number of pages4
JournalClinical Chemistry and Laboratory Medicine
Issue number10
Publication statusPublished - 1993

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical


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