
Doctoral training
Metabolomic tools for diagnosis of inherited metabolic disorders.
Inherited metabolic disorders of purine and pyrimidine (PP) metabolism exhibit broad neurological, hematological, immunological and renal manifestations. They are characterized by increased concentrations of PP metabolites in body fluids caused by abnormal or missing activity of particular enzyme which is involved in their metabolism. Liquid chromatography coupled to tandem mass spectrometry (LC‐MS/MS) is method of choice in the last 15 years for diagnoses of PP metabolic disorders. Due to instrumental price drop high‐resolution mass spectrometry (HRMS) is starting to be increasingly used in clinical laboratories. The aim of this work is to compare diagnostic efficacy of these two approaches.
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