四氢生物蝶呤缺乏型苯丙酮尿症的筛查诊断  

SCREENING DIAGNOSIS FOR PHENYLKETONURIA DUE TO TETRAHYDROBIOPTERIN DEFICIENCY

作　　者：宁聪[1] 刘慎如[2] 魏虹[1] 王珊[1] 舒丹[1] Blau N 王慕逖[1] 

机构地区：[1]同济医科大学同济医院儿科 [2]北京医科大学附一医院儿科 [3]Division of Clinical Chemistry,Kin derspital,University of Zurich,Switzerland

出　　处：《中华医学遗传学杂志》1992年第6期342-344,375,共3页Chinese Journal of Medical Genetics

摘　　要：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。Since 1990, 20 confirmed phenylketonuria (PKU) patients have been screened with a tetrahydrobiopterin (BH_4) loading test, in which plasma phenylaianine and urinary pterin metabolites were investigated, and the activity of dihydropteridine reductase (DHPR) was determined as well. The results showed that there was no statistical difference between the concentrations of plasma phenylalaine before and after taking BH_4 (20mg/kg) in all patients, and the values of urinary neopterin and biopterin were within the range of classic PKU. All patients but one had normal activity of DHPR in red cell. This suggested that the incidence of BH_4 deficiency in PKU patients be five percent (1/20) which is almost the same as reported abroad.

关 键 词：四氢生物蝶呤 苯酮尿症 儿童 诊断 

分 类 号：R725.897[医药卫生—儿科]