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appropriate therapy is curative in some disorders Analysis of cerebrospinal fluid neurotransmitter levels aids identification of the specific monoamine pathway defect and is vital for accurate diagnosis of most primary neurotransmitter disorders and selection of appropriate disease-specific pharmacotherapy Research in the past few years has identified novel monoamine neurotransmitter disorders that involve defects in dopamine transport and monoamine vesicle packaging Discoveries of novel genetic defects and biomarkers in monoamine neurotransmitter disorders, together with novel disease models, will improve our understanding of pathophysiological mechanisms and facilitate the development of new treatments Abstract The monoamine neurotransmitter disorders are important genetic syndromes that cause disturbances in catecholamine (dopamine, noradrenaline and adrenaline) and serotonin homeostasis