Dhondt J L, Farriaux J P
Arch Fr Pediatr. 1981 Oct;38(8):573-8.
Neonatal hyperphenylalaninemia is caused by a defect in phenylalanine metabolism. Two situations have recently emerged : patients with a phenylalanine-hydroxylase deficiency and patients with a defect in de novo synthesis of the cofactor tetrahydrobiopterin. These two categories can be distinguished by enzyme assays and assessment of the levels of pteridines in urine. Because of the need for different treatments, an early differential diagnosis of these forms is crucial. Concerning the study of 18 newly screened hyperphenylalaninemic babies, we have discussed the methods of diagnosis : liver biopsy for enzymatic determinations appeared as too invasive a method; in contrast, the quantitative analysis of pteridines in urine permitted a rapid discrimination of the variants.
新生儿高苯丙氨酸血症是由苯丙氨酸代谢缺陷引起的。最近出现了两种情况：苯丙氨酸羟化酶缺乏的患者和辅因子四氢生物蝶呤从头合成缺陷的患者。这两类患者可以通过酶测定和尿液中蝶啶水平的评估来区分。由于需要不同的治疗方法，对这些类型进行早期鉴别诊断至关重要。关于对18名新筛查出的高苯丙氨酸血症婴儿的研究，我们讨论了诊断方法：肝脏活检进行酶测定似乎是一种侵入性太强的方法；相比之下，尿液中蝶啶的定量分析能够快速区分不同的变异型。
