noun🔗Share苯丙酮尿症 A metabolic disorder in which individuals lack the liver enzyme phenylalanine hydroxylase (PAH) which is needed to metabolize the amino acid phenylalanine."My cousin was diagnosed with phenylketonuria as a baby. "我的表弟/堂弟在婴儿时期就被诊断出患有苯丙酮尿症,这是一种因为身体无法正常分解氨基酸苯丙氨酸而引起的代谢疾病。medicinediseasebiochemistryphysiologybiologyChat with AIVocabulary GamePractice Reading