Dhondt J L, Hayte J M
Laboratoire de biochimie, Hôpital Saint-Philibert, 115, rue du Grand-But, 59462 Lomme cedex.
Ann Biol Clin (Paris). 2002 Mar-Apr;60(2):165-71.
Tetrahydrobiopterin deficiency in hyperphenylalaninemic babies has to be rapidly recognized since the disease requires a specific follow-up. Based on specimen collection on filter paper, a simple strategy for the screening of this condition has been used since 1987. Urine pteridine measurement can detect 6-pyruvoyl-tetrahydropterin synthase, GTPcyclohydrolase I and pterin-4a-carbinolamine dehydratase deficiencies and direct enzyme measurement in dried blood sample detects dihydropteridine-reductase deficiency. A total of 1,814 hyperphenylalaninemic patients have been studied and 34 tetrahydrobiopterin deficiencies have been detected. The strategy must commend itself by its convenience and simplicity, and can be use on all babies with hyperphenylalaninemia screened in the neonatal period, whatever their blood phenylalanine level.
高苯丙氨酸血症婴儿的四氢生物蝶呤缺乏症必须迅速识别出来，因为这种疾病需要特定的随访。自1987年以来，基于滤纸标本采集，一直采用一种简单的策略来筛查这种病症。尿蝶呤测定可检测到6-丙酮酰四氢蝶呤合成酶、GTP环化水解酶I和蝶呤-4a-甲醇胺脱水酶缺乏症，而干血样本中的直接酶测定可检测到二氢蝶呤还原酶缺乏症。总共研究了1814例高苯丙氨酸血症患者，检测到34例四氢生物蝶呤缺乏症。该策略因其便利性和简单性值得推荐，可用于所有在新生儿期筛查出高苯丙氨酸血症的婴儿，无论其血苯丙氨酸水平如何。
