四氢生物蝶呤缺乏症的临床研究

Clinical studies of patients with tetrahydrobiopterin deficiency

目的 :总结四氢生物蝶呤 (BH4)缺乏症的临床表现、诊断及治疗。方法 :对 32 3例高苯丙氨酸血症患者做尿蝶呤分析 ;8例患者进行了BH4负荷试验 ;对 14例BH4缺乏症患者做了治疗、随访。结果 :14例诊断为 6 丙酮酰四氢蝶呤合成酶缺乏所致BH4缺乏症 ,生物蝶呤B % <10 % 11例 ,10 %～ 2 2 % 3例。 14例经BH4、左旋多巴和 5 羟色氨酸治疗后神经系统症状改善。结论 :对所有高苯丙氨酸血症患者进行BH4缺乏症的筛查可以降低误诊率。BH4缺乏症患者治疗越早 ,神经系统症状得到改善越早 ,预后越好。

Objective:To evaluate the clinical manifestations, diagnosis and treatments of patients with tetrahydrobiopterin (BH 4) deficiency.Methods:Analysis of urinary neopterin (N) and biopterin (B) were done in 323 patients with hyperphenylalaninemia by high performance liquid chromatography. BH 4 loading tests were done in 8 patients.14 patients with BH 4 deficiency were treated and followed up.Results:11 cases of 14 patients were diagnosed as BH 4 deficiency caused by 6 pyruvoyl tetrahydroptein synthase (PTPS)deficiency.Their urinary B% were lower than 10%.And B% of other three cases urinary were 10% 22%.14 PTPS deficiency patients were treated with synthetic BH 4, neurotransmitter precursors L dopa and 5 hydroxytryptophan. Their neural symptoms were improved after treatments.Conclusion:The screening for deficiency should be carried out in all patients with hyperphenylalaniemia in order to minimize misdiagnoses.The early treatment will give good treatment efficancy and good prognosis.