Ning C, Liu S R, Wei H, Wang S, Shu D, Blau N, Wang M T
Department of Pediatrics, Tongji Hospital.
J Tongji Med Univ. 1992;12(4):216-8. doi: 10.1007/BF02887852.
Since 1990, 20 diagnostically confirmed phenylketonuria (PKU) patients have been screened with a tetrahydrobiopterin (BH4) loading test, in which plasma phenylalanine and urinary pterin metabolites were investigated, ind activity of dihydropteridine reductase (DHPR) was determined as well. The results showed that there was no statistical difference between the concentrations of plasma phenylalanine before and after BH4 (20mg/kg) administration in all patients, and values of urinary neopterin and biopterin were within the range of classic PKU. All patients but one had normal activity of DHPR in red cells. This suggests that incidence of BH4 deficiency in PKU patients amounts to five percent (1/20) which is almost the same as reported abroad.
自1990年以来，对20例经诊断确诊的苯丙酮尿症（PKU）患者进行了四氢生物蝶呤（BH4）负荷试验筛查，检测了血浆苯丙氨酸和尿蝶呤代谢产物，并测定了二氢蝶啶还原酶（DHPR）的活性。结果显示，所有患者在给予BH4（20mg/kg）前后血浆苯丙氨酸浓度无统计学差异，尿新蝶呤和生物蝶呤值在经典PKU范围内。除1例患者外，所有患者红细胞中DHPR活性均正常。这表明PKU患者中BH4缺乏症的发生率为5%（1/20），与国外报道的几乎相同。
