Hou Mei, Yang Chengqing, Hu Jingfei, Guo Ya, Liu Peipei, Liu Yedan, Song Jie, Wei Wei, Chen Zongbo
Pediatric Department of the Qingdao Women & Children Hospital, No. 6 Tongfu Road, Shandong, 266000, PR China.
Pediatric Department of the Affiliated Hospital of Qingdao University, No. 16 Jiangsu Road, Shandong, 266000, PR China.
Int J Dev Neurosci. 2019 Nov;78:28-32. doi: 10.1016/j.ijdevneu.2019.08.002. Epub 2019 Aug 13.
Tyrosine hydroxylase (TH) deficiency is a rare autosomal recessive inborn error of dopamine transmission, which the deficient gene is at the chromosome 11, also called'Segawa Syndrome'. TH converts tyrosine into L-DOPA, which is the direct precursor of catecholamine biosynthesis. TH deficiency causes a neurological disease with primary extrapyramidal signs and a variable response to L-DOPA. We report three patients in China who were diagnosed with Tyrosine hydroxylase (TH) deficiency by genetic testing and clinical manifestations. After L-DOPA treatment, their condition had sustained improvement.
酪氨酸羟化酶（TH）缺乏症是一种罕见的常染色体隐性遗传性多巴胺传递障碍疾病，其缺陷基因位于11号染色体，也称为“Segawa综合征”。TH将酪氨酸转化为L-多巴，L-多巴是儿茶酚胺生物合成的直接前体。TH缺乏症会导致一种具有原发性锥体外系体征且对L-多巴反应各异的神经疾病。我们报告了在中国通过基因检测和临床表现被诊断为酪氨酸羟化酶（TH）缺乏症的三名患者。经过L-多巴治疗后，他们的病情持续改善。
