Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR-based urinary metabolomics.

ABSTRACT: Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by a deficiency of the arylsulfatase A (ARSA). ARSA deficiency leads to an accumulation of sulfatides primarily in the nervous system ultimately causing demyelination. With evolving therapeutic options, there is an increasing need for indicators to evaluate disease progression. Here, we report targeted metabolic urine profiling of 56 MLD patients including longitudinal sampling, using ¹H (proton) nuclear magnetic resonance (NMR) spectroscopy. ¹H-NMR urine spectra of 119 MLD samples and 323 healthy controls were analyzed by an in vitro diagnostics research (IVDr) tool, covering up to 50 endogenous and 100 disease-related metabolites on a 600-MHz IVDr NMR spectrometer. Quantitative data reports wer

SUBMITTER: Laugwitz L 

PROVIDER: S-EPMC8898726 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature