二氢蝶啶还原酶缺乏症：口服四氢生物蝶呤负荷试验无反应。
Dihydropteridine reductase deficiency: non-response to oral tetrahydrobiopterin load test.
作者信息
Lipson A, Yu J, O'Halloran M, Potter M, Wilken B
出版信息
J Inherit Metab Dis. 1984;7(2):69-71. doi: 10.1007/BF01805806.
PMID:6434829
Abstract
In a child with dihydropteridine reductase deficiency (McKusick 26163) none of four separate oral tetrahydrobiopterin loading tests resulted in a decrease of the serum phenylalanine concentration. This test cannot be recommended for screening hyperphenylalaninaemic patients for dihydropteridine reductase deficiency.
摘要
在一名患有二氢蝶啶还原酶缺乏症（麦库西克26163）的儿童中，四次单独的口服四氢生物蝶呤负荷试验均未导致血清苯丙氨酸浓度降低。不建议使用该试验对高苯丙氨酸血症患者进行二氢蝶啶还原酶缺乏症的筛查。
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