We describe a new missense mutation (Tyr75Cys) in the GCH1 gene. Mutation in the coding region of the gene might be accounted for a part of patients with DRD.

• 我们描述了一个新的错义突变Tyr75Cys,GCH1基因编码区突变能解释部分DRD患者的发病原因。