PHENYLKETONURIA

phenylketonuria, PKU

(noun) 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

Source: WordNet® 3.1

Etymology

Noun

phenylketonuria (countable and uncountable, plural phenylketonurias)

(medicine) A metabolic disorder in which individuals lack the liver enzyme phenylalanine hydroxylase (PAH) which is needed to metabolize the amino acid phenylalanine.

Synonyms

• PKU

Source: Wiktionary

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