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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、N5 2 S、D96 N及 G144 R(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。
Objective To investigate the incidence of tetrahydrobiopterin (BH4) deficiency in hyperphenylalaninemia (HPA) in South China and to summarize the gene mutation and clinical outcome of BH4 deficiency. Methods Urinary Neopterin (N) and Biopterin (B) were analyzed in 87 patients with HPA. Mutations and treatment of BH4 deficiency were followed up. Results 11 cases were diagnosed as BH4 deficiency due to the lack of 6 - pyruvate tetrahydropterin synthetase (PTPS). The urinary N / B> 38, B% <5%, and the incidence in HPA was 12%. Four types of PTPS gene mutations were found in five cases, P87S, N5 2 S, D96 N and G144 R (new mutation types). In 5 cases, the physical development was good after treatment with BH4, L-DOPA and 5-hydroxytryptophan, with IQ of 70 to 80 in 4 cases. Conclusion All patients with HPA should be screened for BH4 deficiency to reduce the rate of misdiagnosis.