Identification of an extraction protocol from dried blood spots for untargeted metabolomics: application to phenylketonuria.

ABSTRACT:

Aim

Phenylketonuria is an inherited metabolic disorder characterized by a deficiency in phenylalanine hydroxylase. However, the impact of this deficit on the patient's overall metabolism is not fully known. Studying this pathology through untargeted metabolomics requires to determine a method for metabolites extraction, here applied to Dried Blood Spot (DBS), a matrix offering several practical advantages.

Methodology

The DBS of 30 phenylketonuric patients and 30 healthy controls were used for the study. Following a literature review, different extraction protocols and solvents were investigated, with or without an evaporation step, and compared to identify the most appropriate protocol to extract metabolites from the DBS for metabolomics analysis of phenylketonuria by LC-MS

SUBMITTER: Vezirian S 

PROVIDER: S-EPMC12474595 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature