pku

Thân thiện

A baby with PKU is given a special formula by a parent.

Definition

Noun: A genetic metabolic disorder caused by the body's inability to properly process the amino acid phenylalanine due to a deficiency of a specific enzyme. This leads to a harmful buildup of phenylalanine, which can cause intellectual disability and other neurological problems if not managed from infancy.

Usage

PKU is a medical term used primarily in clinical, scientific, and healthcare contexts. It is an abbreviation for "phenylketonuria." * Newborns are routinely screened for PKU. * Managing PKU requires a strict lifelong diet low in phenylalanine. * Early diagnosis of PKU is crucial for preventing severe complications.

Advanced Usage

• "to have PKU": to be diagnosed with the disorder.
  • Their daughter has PKU, so they carefully monitor her protein intake.
• "PKU screening/test": the medical procedure to detect the disorder.
  • The PKU test is a standard part of newborn care.

Variants and Related Words

• Phenylketonuria (n): The full, formal name for PKU.
• Phenylalanine (n): The amino acid that accumulates in the bodies of individuals with PKU.

Synonyms

• Phenylketonuria (n): The direct, non-abbreviated synonym.

Notes on Meaning

This word has one specific meaning as a medical condition. It is not used in general language or with figurative meanings.

Học thuật

Noun

1. 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

Từ đồng nghĩa

• phenylketonuria
• PKU