Gene variants of the SLC2A5 gene encoding GLUT5, the major fructose transporter, do not contribute to clinical presentation of acquired fructose malabsorption.

ABSTRACT:

Background

While role of ALDOB-related gene variants for hereditary fructose intolerance is well established, contribution of gene variants for acquired fructose malabsorption (e.g. SLC2A5, GLUT5) is not well understood.

Methods

Patients referred to fructose breath test were further selected to identify those having acquired fructose malabsorption. Molecular analysis of genomic DNA included (I) exclusion of 3 main ALDOB gene variants causing hereditary fructose intolerance and (II) sequencing analysis of SLC2A5 gene comprising complete coding region, at least 20 bp of adjacent intronic regions and 700 bp of proximal promoter.

Results

Among 494 patients, 35 individuals with acquired fructose malabsorption were identified based on pathological fructose-breath test and n

SUBMITTER: Taneva I 

PROVIDER: S-EPMC8985300 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature