Malpuech G, Guyon A, Demeocq F, Piton A, Boespflug O, Vanlieferinghen P
Arch Fr Pediatr. 1984 Jan;41(1):5-8.
In a child presenting with malignant phenylketonuria due to dihydrobiopterin synthetase deficiency, the authors studied the cerebrospinal fluid (CSF) homovanillic acid and 5 hydroxyindole acetic acid levels under different circumstances: without treatment; under a treatment with tetrahydrobiopterin used alone at various doses; under a treatment associating BH4, L-dopa, 5 hydroxytryptophan and carbidopa, with increasing doses and varying administration schedules. This biological study compared with clinical evolution, shows clearly the inefficacy, regardless of the doses, of BH4 on the CSF levels of neuromediators and on the neurological status, and the excellent efficacy of neuromediator precursors provided high doses are given, divided in the nyctohemeral period.
对于一名因二氢生物蝶呤合成酶缺乏而患有恶性苯丙酮尿症的儿童，作者研究了其在不同情况下脑脊液（CSF）中高香草酸和5-羟吲哚乙酸水平：未治疗时；单独使用不同剂量四氢生物蝶呤治疗时；联合使用四氢生物蝶呤、左旋多巴、5-羟色氨酸和卡比多巴治疗时，剂量增加且给药方案不同。这项生物学研究与临床进展相比较，清楚地表明，无论剂量如何，四氢生物蝶呤对神经介质的脑脊液水平和神经状态均无效，而神经介质前体在分时段给予高剂量时疗效极佳。
