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目的 探讨多巴反应性肌张力障碍 (DRD)其四氢生物蝶呤 (BH4)代谢及基因突变与临床表型关系。方法 对DRD的一家系 4人进行苯丙氨酸 (Phe)和BH4负荷试验、尿蝶呤谱分析 ,对所有成员进行三磷酸鸟苷环化水解酶 1基因 (GCH1)检测。结果 3例DRD患儿及母亲平均血Phe浓度、Phe与酪氨酸比值 (Phe/Tyr)在Phe负荷试验 3～ 4h明显高于正常对照组 ,负荷 2h尿生物蝶呤水平上升低于对照组 ;3例患儿服用BH4后上述结果恢复正常。除父亲未检测到基因突变外 ,所有成员GCH1突变类型为IVS5 +3insT。 2例有症状者小剂量左旋多巴 (5 0～ 6 0mg/d)治疗有效。结论 DRD者BH4代谢有不同程度异常 ,临床表型差异较大 ,对原因不明的肌张力障碍者可做DRD的筛查。
Objective To investigate the relationship between the metabolism and gene mutation of tetrahydrobiopterin (BH4) and clinical phenotype in dopa-responsive dystonia (DRD). Methods Four people in a pedigree of DRD were subjected to the phenylalanine (Phe) and BH4 stress tests and the urinary pterin spectrum analysis. All members were tested for the GCH1 gene. Results The average blood Phe concentration, Phe / Tyr ratio in 3 children with DRD and their mothers were significantly higher than those in the normal control group 3 to 4 hours after the Phe stress test, and the levels of urine biopterin increased 2 hours later than those in the control group The above results returned to normal in 3 children after taking BH4. The GCH1 mutation type was IVS5 + 3insT for all members, except the father did not detect the gene mutation. Two cases of symptomatic low-dose levodopa (50 ~ 60mg / d) treatment is effective. Conclusions The metabolism of BH4 in patients with DRD is abnormal to some extent, and the clinical phenotypes are quite different. DRD screening can be performed on dystonia patients with unknown causes.