Quantcast
Merriam-Webster Logo
  • Dictionary
  • Thesaurus
  • Medical
  • Scrabble
  • Spanish Central
  • Learner's Dictionary

Medical Dictionary

phenylketonuria

play
noun phe·nyl·ke·ton·uria \ˌfen-əl-ˌkēt-ən-ˈ(y)u̇r-ē-ə, ˌfēn-\

Medical Definition of phenylketonuria

  1. :  a metabolic disorder that is caused by an enzyme deficiency resulting in the accumulation of phenylalanine and its metabolites (as phenylpyruvic acid) in the blood and their excess excretion in the urine, that is inherited as an autosomal recessive trait, and that causes usually severe mental retardation, seizures, eczema, and abnormal body odor unless phenylalanine is restricted from the diet beginning at birth—abbreviation PKU




Learn More about phenylketonuria


Seen and Heard

What made you want to look up phenylketonuria? Please tell us where you read or heard it (including the quote, if possible).

WORD OF THE DAY

a division or portion of a pool or whole

Get Word of the Day daily email!

WORD GAMES

Take a 3-minute break and test your skills!

image1926873504

Which of the following best describes an easily irritated person?

gregarious flashy tetchy superficial
Name That Thing

Test your visual vocabulary with our 10-question challenge!

TAKE THE QUIZ
SCRABBLE® Sprint

Test Your Knowledge - and learn some interesting things along the way.

TAKE THE QUIZ