Al Sari Rand Redwan, Thalib Husna Irfan, Imad Syeda Sobiah, Khan Sariya, Haidar Shyma, Al Zoabi Bayan Mohammed Khair, Fadda Sahar Hamed, Fuadah Samratul, Alwan Hassan Abu, Alghobaishi Abdullah
Department of General Medicine and Surgery, Batterjee Medical College, Jeddah, Saudi Arabia.
Department of Medicine and Surgery, AlFaisal University, Riyadh, Saudi Arabia.
J Med Life. 2025 Mar;18(3):188-195. doi: 10.25122/jml-2024-0398.
Neurotransmitters play important roles in brain function, influencing cognition, movement, and behavior. Disruption in neurotransmitter biosynthesis, expression, transport, or function due to genetic mutations can lead to various neurological and psychiatric disorders with variable age of onset. Catecholamines like dopamine, norepinephrine, epinephrine, and serotonin are key monoamines transported by specific transporters, including the dopamine transporter (DAT) and the vesicular monoamine transporter 2 (VMAT2). Disorders that involve monoamine neurotransmitter transport include dopamine transporter deficiency syndrome (DTDS) and brain dopamine-serotonin vesicular disorders (PKDYS2). These rare syndromes manifest with movement disorders and neuropsychiatric symptoms. DTDS results from a mutation in the gene affecting dopamine reuptake, while PKDYS2 involves a mutation in the gene impairing the transport of dopamine and serotonin. This review provides a comparative analysis of the diagnostic approaches, the management strategies, and the outcomes for these distinct disorders.
神经递质在脑功能中发挥着重要作用，影响认知、运动和行为。由于基因突变导致神经递质生物合成、表达、转运或功能的破坏，可导致各种不同发病年龄的神经和精神疾病。多巴胺、去甲肾上腺素、肾上腺素和血清素等儿茶酚胺是由特定转运体转运的关键单胺类物质，包括多巴胺转运体（DAT）和囊泡单胺转运体2（VMAT2）。涉及单胺神经递质转运的疾病包括多巴胺转运体缺乏综合征（DTDS）和脑多巴胺 - 血清素囊泡疾病（PKDYS2）。这些罕见综合征表现为运动障碍和神经精神症状。DTDS是由影响多巴胺再摄取的基因突变引起的，而PKDYS2涉及影响多巴胺和血清素转运的基因突变。本综述对这些不同疾病的诊断方法、管理策略和结果进行了比较分析。
