phenylketonuria
phenylketonuria — noun
1. an inherited condition in which the body cannot break down phenylalanine properl
an inherited condition in which the body cannot break down phenylalanine properly, so early treatment and a carefully controlled diet are needed to prevent serious brain and health damage.
The newborn screening test showed that baby Eli had phenylketonuria.
newborn screening detects phenylketonuria
The nurse explained phenylketonuria to Hugo's parents before they went home.
Children with phenylketonuria need a strict diet from early infancy.
The clinic taught Andrés how to manage phenylketonuria at home.
Without treatment, phenylketonuria can harm a child's brain development.
- PKU
common medical abbreviation for the same condition
- metabolic disorder
broader term; phenylketonuria is one specific inherited disorder
- genetic condition
plain, less technical way to describe it without naming the exact diagnosis
文法句型
have/be diagnosed with/manage + phenylketonuria
phenylketonuria + in + [baby/child/person]
用法筆記
Usually discussed in medical or parenting contexts rather than everyday conversation. The abbreviation PKU often appears after the full name is introduced, especially when people talk about newborn screening or lifelong diet control.