Laboratory diagnostics of emergency conditions associated with inborn errors of metabolism

Inborn errors of metabolism are a growing group of monogenic hereditary diseases whose pathogenesis may be accounted for by biochemical disorders. The great majority of these diseases may occur as a metabolic crisis at any period of life. For their adequate treatment, fast recognition of the cause of the metabolic disorder is necessary, as well as good collaboration of all health professionals involved in immediate patient healthcare. On the path to final diagnosis, it is advisable to consult specialised centres in order to select appropriate diagnostic tests and procedures