Original scientific paper
Laboratory diagnostics of emergency conditions associated with inborn errors of metabolism
KSENIJA FUMIĆ
; Department of Laboratory Diagnostics, University Hospital Centre Zagreb, Kišpatićeva 12, 10000 Zagreb, Croatia
KARMEN BILIĆ
; Department of Medical Biochemistry and Haematology, Faculty of Pharmacy and Biochemistry, University of Zagreb, Zagreb, Croatia
Abstract
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.
Keywords
inborn errors of metabolism; metabolic crises; laboratory tests
Hrčak ID:
134165
URI
Publication date:
1.6.2014.
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