noun
phenylketonuria; PKU
Medical term for the inherited metabolic disorder. Used in clinical and scientific contexts.
フェニルケトン尿症は新生児マススクリーニングの対象疾患です。
Phenylketonuria is a target condition of newborn mass screening.
From English 'phenylketonuria', combining 'phenyl', 'ketone', and '-uria' (urine), with Japanese 尿症 (urine disease).