Review article
https://doi.org/10.21860/medflum2026_349316
Metabolomics of Rare Diseases
Lara Saftić Martinović
; Sveučilište u Rijeci, Medicinski fakultet, Zavod za medicinsku biologiju i genetiku, Rijeka, Hrvatska
*
Ines Benčik
; Sveučilište u Rijeci, Medicinski fakultet, Zavod za medicinsku biologiju i genetiku, Rijeka, Hrvatska
Saša Ostojić
; Sveučilište u Rijeci, Medicinski fakultet, Zavod za medicinsku biologiju i genetiku, Rijeka, Hrvatska
Borut Peterlin
; Univerzitetni klinički centar Ljubljana, Klinički institut za genomsku medicinu, Ljubljana, Slovenija
* Corresponding author.
Abstract
Rare diseases represent an extremely heterogeneous group of disorders, mostly of genetic origin, characterized by complex clinical manifestations, delayed diagnosis, and limited therapeutic options. Metabolomics, the science dedicated to the comprehensive analysis of small molecules in biological systems, provides a unique functional insight into the consequences of genetic alterations and metabolic dysfunction. In the context of rare diseases, it plays a pivotal role in the discovery of novel biomarkers, the shortening of time to diagnosis, the assessment of disease severity, and the monitoring of treatment response. When integrated with genetics, other omics, or artificial intelligence, metabolomics improves diagnostic reliability and opens the door to the development of personalized medicine. In this review, the emphasis is placed on methodological approaches and the translational potential of metabolomics. A dedicated section highlights recent examples of how this approach has contributed to a better understanding of rare diseases, including rare metabolic disorders, rare autoimmune, and malignant diseases. These examples do not exhaust the scope of possible applications but illustrate how metabolomics is evolving from a research tool into a clinically relevant platform for biomarker discovery, pathophysiological insight, and the development of personalized therapeutic strategies in rare diseases.
Keywords
biomarkers; metabolomics; personalized medicine; rare diseases; inborn errors of metabolism
Hrčak ID:
349316
URI
Publication date:
1.9.2026.
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