Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysis.

ABSTRACT:

Background

Metabolomics represent a valuable tool to recover biological information using body fluids and may help to characterize pathophysiological mechanisms of the studied disease. This approach has not been widely used to explore inherited metabolic diseases. This study investigates mucopolysaccharidosis type III (MPS III). A thorough and holistic understanding of metabolic remodeling in MPS III may allow the development, improvement and personalization of patient care.

Methods

We applied both targeted and untargeted metabolomics to urine samples obtained from a French cohort of 49 patients, consisting of 13 MPS IIIA, 16 MPS IIIB, 13 MPS IIIC, and 7 MPS IIID, along with 66 controls. The analytical strategy is based on ultra-high-performance liquid chromatography combine

SUBMITTER: Tebani A 

PROVIDER: S-EPMC6122730 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature