Fukuda K, Tanaka T, Hyodo S, Kobayashi Y, Usui T
J Inherit Metab Dis. 1985;8(2):49-52. doi: 10.1007/BF01801661.
We have described the clinical and biochemical status of two patients with tetrahydrobiopterin (BH4) deficiency due to impaired dihydrobiopterin biosynthesis. BH4 administration appeared to improve the mental and psychological status more than did neurotransmitter replacement therapy alone. This enhancement of activities of daily life was seen with a dose of BH4 as low as 1.25 mg kg-1 day-1. Granulocyte adherence capacity was below normal and recovered after BH4 therapy in both patients. B-cell differentiation capacity was altered either before or after therapy.
我们描述了两名因二氢生物蝶呤生物合成受损而导致四氢生物蝶呤（BH4）缺乏患者的临床和生化状况。与单独的神经递质替代疗法相比，给予BH4似乎能更有效地改善精神和心理状态。在低至1.25 mg·kg-1·天-1的BH4剂量下即可观察到日常生活活动能力的增强。两名患者的粒细胞黏附能力均低于正常水平，在接受BH4治疗后恢复正常。B细胞分化能力在治疗前后均发生了改变。
