phenylketonuria

Thân thiện

A doctor explains phenylketonuria to new parents using a simple diagram.

Definition

1. Noun:
   • A genetic disorder of metabolism: Phenylketonuria is an inherited condition where the body cannot properly process an amino acid called phenylalanine due to a missing or deficient enzyme.
   • A cause of intellectual disability if untreated: The accumulation of phenylalanine in bodily fluids can lead to varying degrees of cognitive impairment unless managed through diet.

Usage Examples

• Noun:
  • Newborn screening tests can detect phenylketonuria early.
  • Managing phenylketonuria requires a strict diet low in phenylalanine.
  • The doctor explained that phenylketonuria is an autosomal recessive disorder.

Advanced Usage

• Medical context: The term is primarily used in clinical, genetic, and biochemical discussions.
  • The research paper focused on new treatment modalities for classical phenylketonuria.

Variants and Related Words

• PKU: A common abbreviation for phenylketonuria.
  • The child was diagnosed with PKU at birth.
• Hyperphenylalaninemia: A broader term for elevated phenylalanine levels, which includes phenylketonuria as the most severe form.

Synonyms

• PKU (the standard acronym).

Notes on Meaning

This word refers specifically to a single, well-defined medical condition. It does not have different common meanings outside of this specific genetic context. There are no idioms or phrasal verbs associated with this highly technical term.

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

• pku