Not only doctors are fighting for time to make the right diagnosis, but also their colleagues in laboratories, whose role in this fight can be decisive. Experts from the Department of Clinical Biochemistry at University Hospital Olomouc have made a major contribution by developing a new method of urine analysis. This allows for faster and more accurate diagnosis of inherited metabolic disorders; i.e., rare diseases manifesting themselves as early as in childhood. They can cause severe and even life-threatening conditions.
The existing laboratory method is used by hundreds of laboratories worldwide; in the Czech Republic, these are laboratories in Prague and Olomouc. However, this procedure is lengthy and requires specialised personnel with many years of experience. “The laboratory results are crucial for the timely application of the right treatment and can determine the very survival of a child with disorders such as organic aciduria, in which the metabolism of amino acid breakdown is disturbed. Although these disorders are partly included in newborn screening, only eight biomarkers are examined this way, whereas our method has a total of 146 biomarkers for more than 80 diseases,” says Prof David Friedecký, head of the Department of Clinical Biochemistry at the UP Faculty of Medicine and Dentistry as well as of the successful scientific team. Friedecký was recently made full professor on the proposal of the UP Scholarly Board and is also involved in teaching at the medical faculty.
“This method and the follow-up study provide an innovative approach for the diagnosis of inherited metabolic disorders. These are a group of genetic diseases that affect the body’s metabolism and lead to various health complications and sometimes even death in the child patient. Accurate and early diagnosis is essential for effective treatment, and laboratory diagnosis is crucial in this process. For almost six years, our team has been developing an LC-MS/MS method for the analysis of organic acids, acylcarnitines and acylglycines, which reduces the examination time from eight hours to approximately one hour,” explains Prof Friedecký.
“A prompt and correct diagnosis in hospitalised paediatric patients will allow the initiation of targeted treatment that can save their lives. Appropriate treatment with a correctly determined diagnosis can reduce the possibility of adverse consequences of acute metabolic crisis and prevent these adverse critical conditions in chronic patients,” says Vratislav Smolka, head of the Intensive Care and Resuscitation Unit at the Children’s Clinic of University Hospital Olomouc. The new method was published in the prestigious international journal Clinical Chemistry and Laboratory Medicine.
Another advantage of the new method is its ease and the need for only a few drops of urine. “In the laboratory, even secondary school staff without many years of experience can perform the analysis and evaluate and interpret the results. The previous method used to date requires the participation of experienced specialists, however, these are lacking," adds the head of the Department of Clinical Biochemistry, who collaborated on the development of the new procedure with colleagues from the Children’s Clinic and with the UP Faculty of Medicine and Dentistry. “As part of the clinical validation, more than eight hundred patient urine samples were analysed over two years. In addition, the new method also facilitates a better understanding of these complex disorders, which brings hope for the future to families and the young patients themselves,” concludes Friedecký.