Seminar talk by Dr. Josef Bártl (1. LF UK)
We have a guest, Dr. Josef Bártl form the 1st Medical Faculty. His talk will be about The role of mass spectrometry in the diagnosis of inherited metabolic disorders.
Inherited metabolic disorders (IMDs) encompass a range of conditions displaying clinical symptoms caused by enzyme deficiencies, abnormal cell membrane function, or receptor irregularities stemming from genetic mutations. These variations lead to disruptions in biochemical metabolism, resulting in the accumulation of toxic metabolites or the depletion of essential compounds. IMDs manifest with a wide range of symptoms, affecting various organ systems at any age and are associated with a large heterogenous spectrum of biochemical markers. Hence, this poses challenge in early laboratory diagnostic and following management. Mass spectrometry (MS) represents a rapid analytical tool characterized by heigh sensitivity and specificity. It enables the simultaneous assessment of various IMDs including amino acid disorders, organic acidemias, and fatty acid oxidation disorders within a single experiment. The adoption of tandem mass spectrometry (MS/MS) facilitates the concurrent measurement of multiple metabolites, thus allowing the detection of multiple diseases from a single sample. In our biochemical laboratory we are focused on developing analytical methods for detecting IMDs employing various biological samples, like serum/plasma, urine, CSF, blood and dried blood spot (DBS). Based on over two decades of experience in LC/GC-MS/MS area we have developed comprehensive analytical algorithm for targeted metabolomics applied in newborn screening and selective screening of IMDs. It contributes to higher efficacy in diagnostic procedure and enhances patient outcomes and quality of their life.
