Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research.

ABSTRACT:

Background

Clinical outcome of patients with a classical presentation of galactosemia (classical patients) varies substantially, even between patients with the same genotype. With current biomarkers, it is not possible to predict clinical outcome early in life. The aim of this study was to develop a method to provide more insight into galactose metabolism, which allows quantitative assessment of residual galactose metabolism in galactosemia patients. We therefore developed a method for galactose metabolite profiling (GMP) in fibroblasts using [U-¹³C]-labeled galactose.

Methods

GMP analysis was performed in fibroblasts of three classical patients, three variant patients and three healthy controls. The following metabolites were analyzed: [U¹³C]-galactose

SUBMITTER: van Weeghel M 

PROVIDER: S-EPMC6109347 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature