Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients.

ABSTRACT:

Background

Data suggest that metabolites, other than blood phenylalanine (Phe), better and independently predict clinical outcomes in patients with phenylketonuria (PKU).

Methods

To find new biomarkers, we compared the results of untargeted lipidomics and metabolomics in treated adult PKU patients to those of matched controls. Samples (lipidomics in EDTA-plasma (22 PKU and 22 controls) and metabolomics in serum (35 PKU and 20 controls)) were analyzed using ultra-high-performance liquid chromatography and high-resolution mass spectrometry. Data were subjected to multivariate (PCA, OPLS-DA) and univariate (Mann-Whitney U test, p < 0.05) analyses.

Results

Levels of 33 (of 20,443) lipid features and 56 (of 5885) metabolite features differed statistically between PK

SUBMITTER: Weerd JCV 

PROVIDER: S-EPMC11434371 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature