A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.

ABSTRACT:

Purpose

Peroxisome biogenesis disorders-Zellweger spectrum disorders (PBD-ZSD) are metabolic diseases with multisystem manifestations. Individuals with PBD-ZSD exhibit impaired peroxisomal biochemical functions and have abnormal levels of peroxisomal metabolites, but the broader metabolic impact of peroxisomal dysfunction and the utility of metabolomic methods is unknown.

Methods

We studied 19 individuals with clinically and molecularly characterized PBD-ZSD. We performed both quantitative peroxisomal biochemical diagnostic studies in parallel with untargeted small molecule metabolomic profiling in plasma samples with detection of >650 named compounds.

Results

The cohort represented intermediate to mild PBD-ZSD subjects with peroxisomal biochemical alterations on targ

SUBMITTER: Wangler MF 

PROVIDER: S-EPMC7605708 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature