AI Article Synopsis
- Data indicates that certain metabolites may more effectively predict health outcomes in phenylketonuria (PKU) patients than just blood phenylalanine levels.
- The study utilized advanced techniques to analyze lipid and metabolite profiles in treated adult PKU patients compared to matched controls, revealing significant differences in various lipid and metabolite features.
- The findings contribute to understanding the metabolic characteristics of PKU, suggesting the need for further research to clarify if the observed changes are due to PKU, dietary factors, or other unknown influences.
Article 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, < 0.05) analyses.
Results: Levels of 33 (of 20,443) lipid features and 56 (of 5885) metabolite features differed statistically between PKU patients and controls. For lipidomics, findings include higher glycerolipids, glycerophospholipids, and sphingolipids species. Significantly lower values were found for sterols and glycerophospholipids species. Seven features had unknown identities. Total triglyceride content was higher. Higher Phe and Phe catabolites, tryptophan derivatives, pantothenic acid, and dipeptides were observed for metabolomics. Ornithine levels were lower. Twenty-six metabolite features were not annotated.
Conclusions: This study provides insight into the metabolic phenotype of PKU patients. Additional studies are required to establish whether the observed changes result from PKU itself, diet, and/or an unknown reason.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11434371 | PMC |
| http://dx.doi.org/10.3390/metabo14090479 | DOI Listing |
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