Methods Four members of a DRD family were performed phenylalanine(Phe) and BH 4 loading test as well as urinary pterin analysis. Mutation analysis of GTP cyclohydrolase 1 gene(GCH1) was done in all family members.

• 方法 对DRD的一家系 4人进行苯丙氨酸 (Phe)和BH4负荷试验、尿蝶呤谱分析 ,对所有成员进行三磷酸鸟苷环化水解酶 1基因 (GCH1)检测。