The role of laboratory diagnostics in diagnostic workup of children with suspected rare neurometabolic diseases

Neurometabolic diseases in children are an ever-increasing group of rare diseases. One of the major reasons for this is the availability of new technologies used in selective laboratory diagnostics and newborn screening for inherited metabolic disorders. Such availability also furnishes clinicians with the opportunity to select diagnostic approach. Rapid development of new therapeutic possibilities for an ever-rising number of neurometabolic disorders at the same time imposes the need for early diagnosis and appropriate monitoring of the course of therapy. It is possible to respond to these challenges by multidisciplinary approach to a diseased child, while support of the society is an important factor.
Keywords: RARE DISEASES; METABOLIC DISEASES; CHILDREN; EARLY DIAGNOSIS
Category: Review
Volume: Vol. 64, No 4, october - december 2020
Authors: Ksenija Fumić
Reference work: Paediatr Croat. 2020;64:269-75
DOI: http://dx.doi.org/10.13112/PC.2020.39

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