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