HPPŠ LABORATORY DIAGNOSIS OF NEUROMETABOLIC DISORDERS
K. Fumiæ, M. Maradin
A large number of mostly hereditary disorders and/or lesions related to functions of the nervous system belong to a group of neurometabolic diseases. They are predominantly progressive diseases of the nervous system resulting in developmental delay and loss of motor, mental and sensory abilities. Confirmed clinical suspicion is followed by progressive specialist and laboratory diagnostic management. Selective laboratory patient management comprises three diagnostic levels, i.e. basic metabolic, additional and confirmation tests. The most reasonable choice out of a wide range of possible diagnostic tests depends on clinical data and results of basic tests. Collaboration with other metabolic laboratories involved in the narrow specific field of laboratory metabolic diagnosis is most often necessary for final confirmation of diagnosis. The process of selective laboratory diagnosis of neurometabolic diseases is in most cases complex and time-consuming and requires team approach.