Plasma metabolomic profile changes in females with phenylketonuria following a camp intervention.

ABSTRACT:

Background

There remains a limited understanding of the metabolic perturbations, beyond phenylalanine (Phe) metabolism, that contribute to phenotypic variability in phenylketonuria (PKU).

Objectives

This study aimed to characterize changes in the PKU plasma metabolome following a 5-d metabolic camp intervention and to compare PKU profiles with those of matched healthy controls.

Methods

In 28 females (aged 12-57 y), fasting plasma samples were collected on the first (day 1) and final (day 5) days of camp to measure metabolic control and to complete untargeted metabolomic profiling. Three-day dietary records were collected to assess changes in dietary adherence and composition. Univariate (Wilcoxon signed-rank and Mann-Whitney U test) and multivariate (random forest, hi

SUBMITTER: Schoen MS 

PROVIDER: S-EPMC8895208 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature