Shintaku H, Asada M, Sawada Y
Department of Pediatrics, Osaka City University Graduate School of Medicine, 1-4-3, Asahimachi, Abeno-ku, 545-8585, Osaka, Japan.
Brain Dev. 2000 Sep;22 Suppl 1:S118-21. doi: 10.1016/s0387-7604(00)00132-7.
We detected a case of 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency during a neonatal mass screening and considered the differentiation and treatment of the peripheral form of PTPS deficiency. Although single treatment of BH4 had been started, because of the lowered biopterin (B) value, elevated neopterin (N) value, and N/B ratio in the cerebrospinal fluid (CSF), the peripheral form was judged negative and combined treatment with L-dopa and 5-hydroxy tryptophan (5-HTP) was started. Follow-up study will be necessary to confirm the diagnosis of PTPS deficiency.
我们在新生儿群体筛查中检测到一例6-丙酮酰四氢蝶呤合酶（PTPS）缺乏症病例，并对PTPS缺乏症外周型的鉴别诊断和治疗进行了探讨。尽管已开始单独使用四氢生物蝶呤（BH4）进行治疗，但由于脑脊液（CSF）中生物蝶呤（B）值降低、新蝶呤（N）值升高以及N/B比值升高，外周型被判定为阴性，遂开始左旋多巴和5-羟色氨酸（5-HTP）联合治疗。有必要进行随访研究以确诊PTPS缺乏症。
