本文首次报告了通过新生儿高苯丙氨酸血普查而发现的1例四氢喋呤缺乏的婴儿。小儿七周时开始以L-多巴,5-羟色氨酸,卡比多巴（Carbidopa）和四氢生物喋呤进行治疗,同时接受正常饮食。此时已见肌张力减退。该女孩现已5/2岁,表现轻微的肌张力减退,短暂的四肢张力过高和感觉运动障碍,智力发育约为6—8个月。给以四氢生物喋呤二盐酸每公 This is the first report of a case of tetracycline-deficient infants found by neonatal hyperphenylalanine blood screening. Pediatric treatment with L-dopa, 5-hydroxytryptophan, Carbidopa, and tetrahydrobiopterin begins at seven weeks while receiving a normal diet. Muscle hypotonia has been seen at this time. The girl is now 5/2 years old with mild hypotonia, brief extremities and sensory dyskinesia, and has a mental development of about 6-8 months. Give tetrahydrobiopterin hydrochloride per kilogram