【摘要】 目的　了解高苯丙氨酸血症患儿中 6 丙酮酰四氢蝶呤合成酶缺乏症 (PTPSD)的发病率及PTPSD患儿临床转归情况。方法　用高效液相层析仪 (HPLC)对 6 9例苯丙酮尿症 (PKU)患儿作尿新蝶呤 (N)和生物蝶呤 (B)测定 ,对异常者进行四氢生物蝶呤 (BH4 )负荷试验、6 丙酮酰四氢蝶呤(PTPS)基因突变检测及BH4 、多巴、5 羟色氨酸治疗。结果　 6 9例中 9例诊断为PTPSD ,其尿N/B >38,B % <5 %。 4例患儿中有 4种PTPS基因突变类型 ,即P87S、N5 2S、D96N及G144R(新突变类型 )。 3例严重型患儿经治疗后体格发育良好 ,智商 (IQ) 70～ 80分 ,语言发育落后。 1例部分型患儿未予特殊治疗 ,生长及智能发育正常。结论　对血苯丙氨酸增高者均需要进行四氢生物蝶呤缺乏症的筛查 ,可降低误诊率更多还原

【Abstract】 Objective To show the incidence of 6 Pyruvoyl tetrahydrobiopterin synthase (PTPS) deficiency among hyperphenylalaninemia and conclude the clinical outcome of patients with PTPS deficiency.Methods The urinary neopterin (N) and biopterin (B) were determinated by HPLC in 69 PKU cases. BH 4 loading test and mutation analysis of PTPS were performed in patients who had abnormal urinary pterin patterns. Three patients with PTPS deficiency were placed on treatment with combined synthetic BH 4 and neurotransmitter precursors such as Dopa and 5 hydroxytryptophan. Results 9 out of 69 patients, whose urinary N/B exceed 38 [normal: 1.17(1.4)] and B% were less than 5% [normal: 55.9 (18.6)], were diagnosed as having PTPS deficiency. Four kinds of PTPS gene mutations (P87S, N52S, D96N and G144R) were detected from 4 out of 9 cases with PTPS deficiency. The last mutation was a new mutation. The three typical PTPS deficient patients had satisfactory physical development, their intelligence quotient (IQ) were 70～80 after treatment and one partial PTPSD had normal growth and mental development. Conclusion The screening for BH 4 deficiency should be carried out among all patients with hyperphenylalaninemia in order to avoid misdiagnosis.更多还原