Aldolase B mutations in Italian families affected by hereditary fructose intolerance

G. Sebastio, R. De Franchis, P. Strisciuglio, G. Andria, C. Dionisi Vici, G. Sabetta, R. Gatti, N. C P Cross, T. M. Cox

Research output: Contribution to journalArticlepeer-review

Abstract

Hereditary fructose intolerance (HFI) is an inborn error of metabolism caused by aldolase B deficiency. The aldolase B gene has been cloned and the following mutations causing HFI have been identified: A149P (a G→C transversion in exon 5), A174D (a C→A transversion in exon 5), L288ΔC (a base pair deletion in exon S), and N334K (a G→C transversion in exon 9). We have investigated the occurrence of these mutations in 11 Italian patients affected by HFI using PCR and hybridisation to specific oligomers. We found that four patients were homozygous for the A149P mutation, two patients were homozygous for the A174D mutation, three patients were compound heterozygotes for both the A149P and A174D mutations, one patient was homozygous for the N334K mutation, and one patient did not show any of the reported mutations (HFI diagnosis carried out by aldolase B assay). The L288ΔC mutation has not been found in this survey.

Original languageEnglish
Pages (from-to)241-243
Number of pages3
JournalJournal of Medical Genetics
Volume28
Issue number4
Publication statusPublished - Apr 1991

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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