Pushing the Boundaries of Biomarker Discovery in Phenylketonuria: Metabolomic Profiling Reveals Novel Biomarkers and Their Associations with Phenylalanine
AlMalki et al.
The finding, in our words
Untargeted metabolomics of dried blood spots from 65 people with PKU and matched controls identified 418 dysregulated metabolites, with phenylalanine and 1,11-undecanedicarboxylic acid showing high diagnostic performance (AUC 0.994 and 0.969). The findings suggest novel biomarker candidates to support PKU diagnosis and monitoring using decentralised dried blood spot testing.
A paraphrase to the Library’s standard, never the abstract. The source is one link away and is always the authority.
Volumetric absorptive microsampling showed better precision than dried blood spots and a metabolic profile closer to whole blood, with stable signalling lipids for 24 hours at room temperature but significant changes after one week unless stabilised, indicating feasibility for decentralised sampling with the need for storage strategies.
Thangavelu et al., Analytical and bioanalytical chemistry · source ↗
Untargeted metabolomic profiles from three blood microsampling devices aligned more closely with whole blood than with plasma, and all devices distinguished sex based on amino acids, lipids, and acylcarnitines. This validates that device choice can be tailored to the metabolites of interest for decentralised human biomonitoring.
Avella et al., Metabolomics : Official journal of the Metabolomic Society · source ↗
A comparison of three patient-centric dried blood microsampling devices, paper DBS, Mitra and Tasso-M20, found strong to excellent correlation with traditional venous plasma for measuring branched-chain amino acids and ketoacids. Participants reported high acceptability and expressed a strong willingness to use these devices for decentralised self-collection.
In an untargeted metabolomics study, microsampling devices, particularly the Mitra and Capitainer, yielded metabolic profiles comparable or superior to plasma in feature number and intensity, and in the precision and stability of some metabolites. This supports their potential for large-scale, decentralised metabolic profiling, though the captured metabolite profile was application-dependent.
An optimized 4D-lipidomics UHPLC-HRMS protocol using stable isotope internal standards enabled semi-quantitative profiling of 432 unique lipid features from 10 ̢L dried blood spot samples with high analytical reproducibility. The workflow demonstrates the viability of capillary blood microsampling for large-scale, remote population lipidomics and metabolic profiling.