Department of Pediatrics, Division of Neurology, Bursa Yuksek İhtisas Training and Research Hospital, 16310, Yıldırım/Bursa, Turkey.
Department of Pediatrics, Division of Metabolism, Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey.
Metab Brain Dis. 2021 Dec;36(8):2255-2262. doi: 10.1007/s11011-021-00838-w. Epub 2021 Sep 22.
Neurotransmitter disorders are a group of neurometabolic syndromes caused by disturbances of neurotransmitter metabolism. The primary aim of this retrospective study is to present patients with disturbances of monoamine neurotransmitter metabolism. Cerebrospinal fluid (CSF) neurotransmitter measurements and genetic analysis were performed on five patients. Five patients who had various movement disorders and motor and cognitive disabilities were included. Four patients were diagnosed with sepiapterin reductase (SR) deficiency, and one was diagnosed with aromatic L-amino acid decarboxylase (AADC) deficiency. Different treatment responses appeared in patients with SR and AADC deficiency. The responses to drug treatment ranged from good to weak in our patients. The diagnosis process is challenging in patients with SR and AADC deficiency, which present similar clinical features to other neurological and metabolic diseases. Investigations of neurotransmitters in CSF and analysis of related genes are essential to differentiate disturbances of monoamine neurotransmitter metabolism from other neurometabolic diseases. For patients with monoamine neurotransmitter disorders, drugs that target these disturbances should be combined as necessary to produce the appropriate response.
神经递质紊乱是一组由神经递质代谢紊乱引起的神经代谢综合征。本回顾性研究的主要目的是介绍伴有单胺神经递质代谢紊乱的患者。对五名患者进行了脑脊液（CSF）神经递质测量和基因分析。共纳入五名患有各种运动障碍和运动及认知障碍的患者。四名患者被诊断为蝶呤还原酶（SR）缺乏症，一名被诊断为芳香族 L-氨基酸脱羧酶（AADC）缺乏症。SR 和 AADC 缺乏症患者的治疗反应不同。我们的患者对药物治疗的反应从良好到微弱不等。SR 和 AADC 缺乏症患者的诊断过程具有挑战性，因为它们与其他神经和代谢疾病具有相似的临床特征。CSF 中神经递质的研究和相关基因的分析对于区分单胺神经递质代谢紊乱与其他神经代谢疾病至关重要。对于单胺神经递质紊乱的患者，必要时应联合使用针对这些紊乱的药物以产生适当的反应。
