atypical phenylketonuria非典型苯丙酮酸尿
phenylketonuria trustworthy苯丙酮尿症
Classical phenylketonuria典型的苯丙酮酸尿
congenital phenylketonuria先天性苯酮尿症
phenylketonuria PKU苯丙酮尿症
Malignancy phenylketonuria恶性苯丙酮尿症
maternal phenylketonuria母体苯丙酮尿症
phenylketonuria screening苯丙酮尿症筛查
classic phenylketonuria典型性苯丙酮酸尿
Phenylketonuria(PKU) is a genetic disease as a result of chromosome abnormality, which can cause the metabolization disorder of phenylalanine.
苯丙酮尿症(PKU)是一种由于人体正常染色体缺陷,造成的新生儿体内苯丙氨酸代谢紊乱性疾病。
参考来源 - 河南省苯丙酮尿症患者苯丙氨酸羟化酶基因突变的构成 The mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Henan provinceN（名词） a congenital metabolic disorder characterized by the abnormal accumulation of phenylalanine in the body fluids, resulting in various degrees of mental deficiency 苯丙酮酸尿症