Kaufman S, Kapatos G, McInnes R R, Schulman J D, Rizzo W B
Pediatrics. 1982 Sep;70(3):376-80.
Substantial amounts of tetrahydrobiopterin and 6-methyltetrahydropterin can be detected in CSF when these pterins are given peripherally to patients with hyperphenylalaninemia due to defective biopterin synthesis. Results of this study suggest that administration of either of these pterins in proper doses may prove to be a treatment not only for the impaired peripheral phenylalanine metabolism, but also for the neurologic disorders that are characteristic of the variant forms of hyperphenylalaninemia due to defective tetrahydrobiopterin synthesis or metabolism.
当将这些蝶呤经外周给予因蝶呤合成缺陷导致高苯丙氨酸血症的患者时，可在脑脊液中检测到大量的四氢生物蝶呤和6 - 甲基四氢蝶呤。本研究结果表明，以适当剂量给予这两种蝶呤中的任何一种，可能不仅被证明是治疗外周苯丙氨酸代谢受损的方法，而且也是治疗因四氢生物蝶呤合成或代谢缺陷导致的高苯丙氨酸血症变异形式所特有的神经障碍的方法。
