TETRAHYDROBIOPTERIN DEFICIENCIES - PRELIMINARY-ANALYSIS FROM AN INTERNATIONAL SURVEY
TETRAHYDROBIOPTERIN DEFICIENCIES - PRELIMINARY-ANALYSIS FROM AN INTERNATIONAL SURVEY
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DOI：
10.1016/s0022-3476(84)80537-5
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发表时间：
1984-01-01
影响因子：
5.1
通讯作者：
DHONDT, JL
中科院分区：
文献类型：
--
作者：
DHONDT, JL
四氢生物蝶呤缺乏症是一种罕见的原因高苯丙氨酸血症综合征。该疾病的自然史的特征是进行性神经系统疾病，对苯丙氨酸限制饮食无反应。已报告50例患者。根据文献记载的病例，可以作出以下陈述：（1）高苯丙氨酸血症婴儿的发病率可以合理估计为2%。(2)大多数患者新生儿血液苯丙氨酸浓度较高，但有些患者仅轻度升高。(3)在现有的诊断试验中，尿蝶啶测定应推荐用于所有高苯丙氨酸血症的婴儿。（4）对膳食苯丙氨酸的耐受性普遍较高。(5)神经递质替代疗法的结果令人鼓舞，但治疗应在第一个月内开始，并需要严格的随访方案。因此，在每一个古特里试验结果阳性的新生儿中，快速调查苯丙氨酸羟化酶缺乏症（苯丙酮尿症、轻度高苯丙氨酸血症、一过性高苯丙氨酸血症）和BH 4缺乏症。
Tetrahydrobiopterin deficiency is a rare cause of hyperphenylalaninemic syndromes. The natural history of the disease is characterized by progressive neurologic illness unresponsive to a phenylalanine-restricted diet. Fifty patients have been reported. From the documented cases, the following statements can be made: (1) An incidence of 2% among hyperphenylalaninemic babies can be reasonably estimated. (2) Most patients have high neonatal blood phenylalanine concentrations, but some have only mild elevations. (3) Among the available diagnostic tests, measurement of urine pteridines should be proposed in all hyperphenylalaninemic babies, (4) The tolerance to dietary phenylalanine is generally high. (5) The results of neurotransmitter replacement therapy are encouraging, but treatment should be started within the first month and requires a strict follow-up protocol. Consequently, in every newborn infant with positive Guthrie test results, a rapid investigation phenylalanine-hydroxylase deficiencies (phenylketonuria, mild hyperphenylalaninemia, transient hyperphenylalaninemia) and BH4deficiencies.