Abstract
Inherited metabolic disorders (IMDs) represent a heterogeneous group of diseases, whose common feature is the presence of enzymatic abnormalities or deficiency of structural, assembly or transport proteins participating in various metabolic processes and pathways. Clinical findings ar dependent mainly on exact molecular defect and on level of residual enzymatic activity.
In majority of cases the first clinical signs of the disease develop during early childhood, however some IMDs have their onset later or even during adulthood. The early diagnosis is essential for the treatment commencement and for genetic counseling or prenatal diagnostic in affected families.
Expanded newborn screening speeds up the diagnostic process in some IMDs, but in others the selective screening of symptomatic patients at risk of IMDs is crucial. With the help of precise description of natural course of selected IMDs in a series of 47 case reports we try to highlight the need to incluce IMDs into differential diagnostics in every child or adult with unexplained etiopathogenesis of their clinical symptoms.