| 释义 |
〔phenylketonuria〕A genetic disorder in which the body lacks the enzyme necessary to metabolize phenylalanine to tyrosine. Left untreated, the disorder can cause brain damage and progressive mental retardation as a result of the accumulation of phenylalanine and its breakdown products.苯丙酮尿：一种先天性代谢异常，其机体缺乏将苯丙氨酸代谢成酪氨酸所必需的酶。如果不治疗，这种异常会导致脑损伤和精神抑制，这是苯基丙氨酸沉积和其分解物的产物 |