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Article

Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.

Human mutation - 1 Dec 2004

Esposito Gabriella, Santamaria Rita, Vitagliano Luigi, Ieno Luigi, Viola Antonietta, Fiori Laura, Parenti Giancarlo, Zancan Lucia, Zagari Adriana, Salvatore Francesco

Abstract excerpt

Hereditary fructose intolerance (HFI) is a recessively inherited disorder of carbohydrate metabolism caused by impaired functioning of human liver aldolase (B isoform; ALDOB). To-date, 29 enzyme-impairing mutations have been identified in the aldolase B gene. Here we report six novel HFI single nucleotide changes identified by sequence analysis in the aldolase B gene. Three of these are missense mutations...

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Identifiers

PMID: 15532022
DOI: 10.1002/humu.9290

Genes

ALDOB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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