Diagnostic methods and possibilities for diagnosis of inherited metabolic disorders in Croatia
Complexity of laboratory diagnosis of inherited metabolic disorders is increasing, as does the number of newly detected diseases. This complexity primarily refers to the choice of optimal methods and procedures for disease detection and treatment monitoring in a large number of usually rare disorders. In addition, specialized metabolic laboratories are expected to provide adequate interpretation of test results that may be useful to physicians of other specialties. Such challenges are not easily met even by metabolic laboratories in economically stronger countries than Croatia. Novel therapeutic possibilities require ever earlier diagnosis and have considerably prolonged the lifespan of patients with inherited metabolic disorders, who can consequently be found in all age groups. Good collaboration of all who provide medical care at different levels to patients with inherited metabolic disorders may largely improve the position of this group of patients in the Croatian health system
Key words:
laboratory techniques and procedures; lysosomal storage diseases; metabolic diseases; metabolism, inborn errors
OGLASI
