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对20例确诊为PKU的患儿进行了四氢生物蝶呤(BH_4)负荷试验、尿液蝶呤分析和红细胞二氢生物蝶呤还原酶(DHPR)活性检测。结果显示:所有患儿在口服BH4(20mg/kg)后血浆苯丙氨酸浓度与试验前比较无统计学差异;尿液新蝶呤和生物蝶呤分析数值均在典型PKU症范围内;除1例外,19例患儿DHPR酶活性在正常范围内。根据本组结果,BH_4缺乏型PKU占全部患儿的5%(1/20)。与国外报道近似。
Tetrahydrobiopterin (BH_4) stress test, urinary pterin analysis and erythrocyte dihydrogenporphyrin reductase (DHPR) activity were detected in 20 children diagnosed with PKU. The results showed that there was no significant difference in plasma phenylalanine concentrations after oral administration of BH4 (20 mg / kg) in all children. The values of neopterin and biopterin in urine were all within the range of typical PKU. 1 exception, DHPR enzyme activity in 19 children in the normal range. According to this group of results, BH_4-deficient PKU accounts for 5% of all children (1/20). Similar with foreign reports.