Abstract
The aim of this paper is to summarize recent knowledge about neurotransmitter disorders, which constitute a group of rare neurometabolic diseases with heterogeneous symptomatology. The diagnosis of neurotransmitter disorders is based almost exclusively on the quantitative determination of the neurotransmitters and/or their metabolites in the cerebrospinal fluid.
This method was newly established in our hospital laboratory – until now not available in Czech republic. The aim of this paper is to review the current state of knowledge of disorders of biogenic amine metabolism in infancy and childhood.
We would like to present this to the professional community to encourage the inclusion of neurotransmitter disorders in the differential diagnosis of infants suspected of suffering from neurometabolic disease.