Neurotransmitter Disorders in Childhood and Differential Diagnosis

Authors: K. Szentiványi 1;  H. Hansíková 1;  J. Krijt 2;  P. Ješina 1;  M. Magner 1;  J. Zeman 1;  T. Honzík 1
Authors‘ workplace: 1. LF UK a VFN v Praze Klinika dětského a dorostového lékařství 1;  1. LF UK a VFN v Praze Ústav dědičných metabolických poruch 2
Published in: Cesk Slov Neurol N 2010; 73/106(6): 656-662
Category: Review Article


Neurotransmitter disorders constitute a group of rare neurometabolic diseases with hetero­geneous symptomatology, mostly manifesting in early childhood. To date, ten enzyme deficiencies in the pathway of the biogenic amines have been described. The major clinical features are parkinsonism, dystonia, myoclonic epilepsy and spastic paraparesis. The dia­gnosis of neurotransmitter disorders is based almost exclusively on the quantitative determination of the neurotransmitters and/or their metabolites in the cerebrospinal fluid. Treatment options include administration of neurotransmitter precursors, including L-DOPA and ­5-hydroxytryptophan, but the effects of treatment appear highly variable. 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.


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