Phenylketonuria

//fɛnəlkitəˈnʊɹi.ə// noun

noun ·Rare ·Advanced level

Definitions

Noun
  1. 1
    A metabolic disorder in which individuals lack the liver enzyme phenylalanine hydroxylase (PAH) which is needed to metabolize the amino acid phenylalanine. countable, uncountable
  2. 2
    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 wordnet

Synonyms

All synonyms
pkuhyperphenylalaninemiapku

Example

More examples

"Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood."

Etymology

From phenylketone + -uria.

Related phrases

amino acidphenylalanine hydroxylase

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Data sourced from Wiktionary, WordNet, CMU, and other open linguistic databases. Updated March 2026.