Review article
https://doi.org/10.26800/LV-146-supl1-18
The role of biochemical methods in the diagnosis of inherited metabolic diseases in the new technology era
Ksenija Fumić
Ana Škaričić
Iva Bilandžija Kuš
Korana Lipovac
Ivana Križić
Abstract
In a challenging field of inherited metabolic diseases, the aim is preventive, predictive, personalized and participative approach to the patient. Modern laboratory technologies in the following omics fields: genomics, transcriptomics, epigenomics, proteomics, glycomics, metabolomics and lipidomics, provide great diagnostic possibilities, allow better pathophysiological understanding of disorders and enable development of novel therapeutic approaches. One of the principal challenges in this area turns out to be the integration and clinical significance of a large number of obtained data. Despite availability of numerous new technologies, biochemical methods still have an important place in diagnostics and monitoring of the therapy course of rare diseases. In addition to targeted metabolomics, untargeted metabolomics is in clinical practice becoming a dependable technology that allows detection of novel specific markers, metabolic profiling and personalized approach to treatment.
Keywords
INBORN ERRORS OF METABOLISM; TARGETED METABOLOMICS; UNTARGETET METABOLOMICS; MICROSAMPLING
Hrčak ID:
315832
URI
Publication date:
11.4.2024.
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