Marecos Clara, Ng Joanne, Kurian Manju A
Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
J Inherit Metab Dis. 2014 Jul;37(4):619-26. doi: 10.1007/s10545-014-9697-4. Epub 2014 Apr 3.
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.
单胺神经递质紊乱越来越被认为是一组不断扩大的遗传性神经代谢综合征,由生物胺(包括儿茶酚胺(多巴胺、去甲肾上腺素和肾上腺素)和5-羟色胺)的合成、运输和代谢紊乱引起。单胺代谢紊乱会导致神经综合征,这些综合征常常类似其他病症,如缺氧缺血性脑病、脑瘫、帕金森 - 肌张力障碍综合征、原发性遗传性肌张力障碍和发作性疾病。因此,神经递质紊乱常常被误诊。这些神经递质紊乱的早期准确诊断很重要,因为许多病症对治疗干预高度敏感,有些甚至可通过治疗干预治愈。在本综述中,我们重点介绍该领域的最新进展,特别是最近对已知神经递质紊乱的广泛特征描述以及新型神经递质紊乱的识别。我们还概述了该领域目前和未来专注于开发新型治疗策略的研究。