a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency
例句
Objective:To describe the bone X-ray changes in phenylketonuria. 目的：探讨苯丙酮尿症患者的骨骼X线学表现。
Objective:To describe the bone X ray changes in phenylketonuria. 目的:探讨苯丙酮尿症患者的骨骼X线学表现。
Study on Phe cut-off point of neonatal phenylketonuria screening in Daqing. 大庆地区新生儿苯丙酮尿症苯丙氨酸筛查切值的研究
Study on brain delayed myelination and blood phenylalanine of patients with phenylketonuria. 苯丙酮尿症患儿脑髓鞘发育延迟与血苯丙氨酸浓度关系的研究。
Conclusion:The special bone changes in phenylketonuria were important X-ray signs suggestive of phenylketonuria. 结论：苯丙酮尿症特异性的骨骼改变是诊断苯丙酮尿症的重要X线征。
Objective:To summarize the brain abnormalities in phenylketonuria(PKU) patients by using MRI. 目的：分析苯丙酮尿症颅脑MRI异常表现。
