A diagnostic algorithm for inherited metabolic disorders using untargeted metabolomics.

ABSTRACT:

Introduction

Untargeted metabolomics is a powerful tool for detecting perturbations in biological systems, offering significant potential for screening for rare inherited metabolic disorders (IMDs). However, the rarity and vast diversity of these diseases, results in limited availability of samples and incomplete metabolic pathway knowledge for each condition. Current diagnostic procedures rely heavily on manual interpretation, which is time-consuming, and data driven approaches are insufficient for small sample sizes.

Objectives

To develop a diagnostic algorithm for IMDs addressing the challenges posed by small sample sizes and continuously evolving datasets.

Methods

77 IMD patients (35 different IMDs) and 136 control samples were collected from Copenhagen University

SUBMITTER: Gao Q 

PROVIDER: S-EPMC12301266 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature