Szymańska Krystyna, Kuśmierska Katarzyna, Demkow Urszula
Department of Experimental and Clinical Neuropathology, Medical Research Center, Polish Academy of Sciences, Warsaw, Poland.
Adv Exp Med Biol. 2015;837:1-8. doi: 10.1007/5584_2014_86.
Neurotransmitters (NTs) play a central role in the efficient communication between neurons necessary for normal functioning of the nervous system. NTs can be divided into two groups: small molecule NTs and larger neuropeptide NTs. Inherited disorders of NTs result from a primary disturbance of NTs metabolism or transport. This group of disorders requires sophisticated diagnostic procedures. In this review we discuss disturbances in the metabolism of tetrahydrobiopterin, biogenic amines, γ-aminobutyric acid, foliate, pyridoxine-dependent enzymes, and also the glycine-dependent encephalopathy. We point to pathologic alterations of proteins involved in synaptic neurotransmission that may cause neurological and psychiatric symptoms. We postulate that synaptic receptors and transporter proteins for neurotransmitters should be investigated in unresolved cases. Patients with inherited neurotransmitters disorders present various clinical presentations such as mental retardation, refractory seizures, pyramidal and extrapyramidal syndromes, impaired locomotor patterns, and progressive encephalopathy. Every patient with suspected inherited neurotransmitter disorder should undergo a structured interview and a careful examination including neurological, biochemical, and imaging.
神经递质（NTs）在神经系统正常运作所必需的神经元之间的有效通信中起着核心作用。神经递质可分为两类：小分子神经递质和较大的神经肽神经递质。神经递质的遗传性疾病是由神经递质代谢或转运的原发性紊乱引起的。这组疾病需要复杂的诊断程序。在本综述中，我们讨论了四氢生物蝶呤、生物胺、γ-氨基丁酸、叶酸、维生素B6依赖性酶的代谢紊乱，以及甘氨酸依赖性脑病。我们指出参与突触神经传递的蛋白质的病理改变可能会导致神经和精神症状。我们推测，在未解决的病例中应研究神经递质的突触受体和转运蛋白。患有遗传性神经递质疾病的患者表现出各种临床症状，如智力迟钝、难治性癫痫、锥体和锥体外系综合征、运动模式受损和进行性脑病。每个疑似患有遗传性神经递质疾病的患者都应接受结构化访谈和仔细检查，包括神经学、生物化学和影像学检查。
