CAJ | 학술논문

目的得出我国南方高苯丙氨酸血症(hyperphenylalaninemia,HPA)者四氢生物蝶呤(tetrahydrobiopterin, BH4)缺乏症的发病率，总结BH4缺乏症者基因突变和临床转归的研究。方法对87例HPA者做尿新蝶呤(N)和生物蝶呤(B)分析；对BH4缺乏症者进行基因突变检测及治疗随访。结果11例诊断为6-丙酮酰四氢蝶呤合成酶(PTPS)缺乏所致BH4缺乏症，其尿N/B＞38，B%＜5%，在HPA中其发病率为12%。5例中发现4种PTPS基因突变类型，即P87S、N52S、D96N及G144R(新突变类型)。5例经BH4、L-DOPA及5-羟色氨酸治疗后体格发育良好，4例智商(IQ)70～80分。结论对所有HPA者需进行BH4缺乏症的筛查，以降低误诊率。
목적득출아국남방고분병안산혈증(hyperphenylalaninemia,HPA)자사경생물접령(tetrahydrobiopterin, BH4)결핍증적발병솔，총결BH4결핍증자기인돌변화림상전귀적연구。방법대87례HPA자주뇨신접령(N)화생물접령(B)분석；대BH4결핍증자진행기인돌변검측급치료수방。결과11례진단위6-병동선사경접령합성매(PTPS)결핍소치BH4결핍증，기뇨N/B＞38，B%＜5%，재HPA중기발병솔위12%。5례중발현4충PTPS기인돌변류형，즉P87S、N52S、D96N급G144R(신돌변류형)。5례경BH4、L-DOPA급5-간색안산치료후체격발육량호，4례지상(IQ)70～80분。결론대소유HPA자수진행BH4결핍증적사사，이강저오진솔。
Objective　 To find out the incidence of tetrahydrobiopterin deficiency (BH4D) among patients with hyperphenylalaninemia in Southern Chinese and evaluate the clinical outcome and gene mutations of tetrahydrobiopterin deficient patients. Methods　 Analyses of urinary neopterin(N) and biopterin(B) were done in 87 patients with hyperphenylalaninemia by high-performance liquid chromatography. The patients with BH4 deficiency and their parents were asked to undergo the gene mutation analysis and the patients were treated and followed up. Results　Eleven cases of which the urinary N/B ratio was higher than 38 and B% lower than 5% were diagnosed as BH4 deficiency caused by 6-pyruvoyl- tetrahydropterin synthase(PTPS) deficiency. The incidence of BH4 deficiency among patients with hyperphenylalaninemia is 12% in Southern Chinese. PTPS gene mutations(P87S,N52S,D96N and G144R) were detected from 5 PTPS deficient families. The G144R mutation is a new mutation. The five PTPS-deficient patients were treated with synthetic BH4, neurotransmitter precursors L-dopa and 5-hydroxytryptophan. They had satisfactory physical and mental development after treatment, and 4 of them scored their IQ 70-80. Conclusion　 The screening for BH4 deficiency should be carried out in all patients with hyperphenylalaninemia in order to minimize the misdiagnoses.