Results: The DRD patients had two missense mutations (A190V, T106I) and two frameshift mutations (K107fs, M211fs), one nonsense mutation (K239X), and a deletion of exons 2 and 3. Student's t test was used to compare values. It indicated that plasma neopterin level of DRD (+/−) was lower than those of controls (p=0.0002). Plasma biopterin level of DRD (+/−) and controls showed no significant difference (p=0.2866). Significant differences between DRD (+/−) and controls were also shown in CSF neopterin level (p=0.0014) and CSF biopterin level (p<0.0001). Data were expressed as average±SD.