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pku

 

Definitions from WordNet

Noun pku has 1 sense
  1. phenylketonuria, PKU - a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency
    --1 is a kind of inborn error of metabolism

Definitions from the Web

PKU

Description:

PKU (Phenylketonuria) is a rare genetic disorder that affects the processing of an amino acid called phenylalanine. Individuals with PKU are unable to properly metabolize phenylalanine, which can lead to a buildup of this substance in the blood and brain. If left untreated, PKU can cause intellectual disabilities and other health problems.

Senses:

Sense 1:

Noun: PKU refers to the genetic disorder called Phenylketonuria.

Sense 2:

Noun: PKU can also refer to the test used to diagnose Phenylketonuria.

Examples:

Sense 1 - Noun:

1. Emily was born with PKU and requires a strict low-protein diet to manage her condition.

2. The doctor explained that PKU is inherited as an autosomal recessive condition.

Sense 2 - Noun:

1. The newborn screening included the PKU test to detect phenylketonuria early on.

2. The PKU results were negative, indicating that the infant did not have the genetic disorder.

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