Review article
https://doi.org/10.26800/LV-146-supl1-17
Rational indications of metabolic investigations
Ivo Barić
*
Danijela Petković Ramadža
Tamara Žigman
* Corresponding author.
Abstract
Rational selection, schedule and time of onset of metabolic biochemical tests are key elements of successful diagnostics of inherited metabolic diseases. To achieve that, specific knowledge is necessary on what can be expected from each test and when, what is the turn around time, which tests, where and under which conditions are available. In this context, when metabolic test are indicated, it is very useful to consult metabolic pediatricians. For optimal diagnostics, close collaboration between clinicians and biochemists are important, as well. In this text, indications and reaches primarily of the tests available in Croatia are clarified from the clinician’s viewpoint. Separately are described indications for orientation metabolic and routine biochemical tests (available
in all hospitals), hightlighting additionally in practice neglected diagnostic values of those tests in recognizing of inherited metabolic diseases, and separately specific metabolic tests which are performed in the only metabolic laboratory in Croatia.
Keywords
INHERITED METABOLIC DISEASES; TESTS; INDICATIONS; DIAGNOSIS
Hrčak ID:
315831
URI
Publication date:
11.4.2024.
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