Pediatria pre prax 4/2001
Screening dědičných metabolických poruch aneb Co by měl pediatr vědět o dědičných metabolických poruchách a možnostech jejich di
Screening of inherited metabolic disorders or What should paediatrician and paediatric practitioner know about inherited metabolic disorders and possibility of their diagnostics Inherited metabolic disorders or inborn errors of metabolism (IMD) are important cause of mortality and morbidity in all age categories, especially in neonates and children. Diagnostics of IMD is sophisticated interdisciplinary process that is very expensive and needs highly specialized equipment and staff. Determination of the specific metabolite, enzyme activity deficiency, DNA or RNA analysis and specific tissue investigation are necessary for precise diagnostics of the IMD. Majority of patients with IMD remain undiagnosed. The author tried to summarize basic information for early and quick laboratory diagnostics of IMD for paediatricians and paediatric practitioners. Only close cooperation between referring physician and specialized diagnostic centre can significantly increase number of diagnosed patients. In treatable IMD early diagnostics can essentially improve clinical conditions of the patient and its prognosis, in untreatable diseases it can at least avoid birth of other handicapped children in the family. Key words: inherited metabolic diseases, inborn errors of metabolism, selective screening, newborn screening, laboratory diagnostics.
