Guthrie卡片上的血斑可用于高苯丙氨酸血症婴儿的遗传性四氢生物蝶呤缺乏症筛查。
Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.
作者信息
Leeming R J, Barford P A, Blair J A, Smith I
出版信息
Arch Dis Child. 1984 Jan;59(1):58-61. doi: 10.1136/adc.59.1.58.
Abstract
We describe a method of screening for dihydropteridine reductase deficiency and dihydrobiopterin synthesis deficiency--the two inherited defects that cause tetrahydrobiopterin deficiency--using blood spots on Guthrie cards. Dihydropteridine reductase deficiency may be identified positively, and a biopterin value of less than 6.0 micrograms/l in the presence of hyperphenylalaninaemia indicates further investigation for dihydrobiopterin synthesis deficiency.
摘要
我们描述了一种利用格思里卡片上的血斑来筛查二氢蝶啶还原酶缺乏症和二氢生物蝶呤合成缺乏症的方法，这两种遗传性缺陷会导致四氢生物蝶呤缺乏。二氢蝶啶还原酶缺乏症可以得到明确诊断，在高苯丙氨酸血症情况下，生物蝶呤值低于6.0微克/升表明需进一步检查二氢生物蝶呤合成缺乏症。
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Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.Guthrie卡片上的血斑可用于高苯丙氨酸血症婴儿的遗传性四氢生物蝶呤缺乏症筛查。
Arch Dis Child. 1984 Jan;59(1):58-61. doi: 10.1136/adc.59.1.58.
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