Diagnostic problems in hereditary metabolic disorders during the neonatal period from the aspect of the child neurologist
Abstract
In recent years the volume of biochemical and genetic information in medicine increased substantially. The original group of degenerative nervous system diseases shifts into the area of metabolic disorders with a clearly defined enzymopathy, coenzyme disorders or disorders of transport mechanisms.
Molecular genetic methods make it possible to elucidate in these diseases new associations at the DNA level. Although diagnostic possibilities have improved so profoundly, a coresponding increase of verified diseases has not been recorded.
The submitted paper deals with the reasons of this problem from the aspect of the child neurologist and discusses possibilities of an optimal diagnostic procedure in hereditary metabolic disorders during the neonatal period.