Journal of Inherited Metabolic Disease

, Volume 37, Issue 4, pp 619–626

What is new for monoamine neurotransmitter disorders?

ICIEM Symposium 2013

DOI: 10.1007/s10545-014-9697-4

Cite this article as:
Marecos, C., Ng, J. & Kurian, M.A. J Inherit Metab Dis (2014) 37: 619. doi:10.1007/s10545-014-9697-4


The monoamine neurotransmitter disorders are increasingly recognized as an expanding group of inherited neurometabolic syndromes caused by disturbances in the synthesis, transport and metabolism of the biogenic amines, including the catecholamines (dopamine, norepinephrine, and epinephrine) and serotonin. Disturbances in monoamine metabolism lead to neurological syndromes that frequently mimic other conditions, such as hypoxic ischemic encephalopathy, cerebral palsy, parkinsonism-dystonia syndromes, primary genetic dystonia and paroxysmal disorders. As a consequence, neurotransmitter disorders are frequently misdiagnosed. Early and accurate diagnosis of these neurotransmitter disorders is important, as many are highly amenable to, and some even cured by, therapeutic intervention. In this review, we highlight recent advances in the field, particularly the recent extensive characterization of known neurotransmitter disorders and identification of novel neurotransmitter disorders. We also provide an overview of current and future research in the field focused on developing novel treatment strategies.

Copyright information

© SSIEM and Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  1. 1.Department of NeurologyGreat Ormond Street Hospital for Children NHS Foundation TrustLondonUK
  2. 2.Developmental Neurosciences, UCL-Institute of Child Health, Room 111 Level 1 CMGUInstitute of Child HealthLondonUK

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