phenylketonuria

play
noun phe·nyl·ke·ton·uria \ˌfe-nəl-ˌkē-tən-ˈu̇r-ē-ə, ˌfē-, -ˈyu̇r-\

Definition of phenylketonuria

  1. :  an inherited metabolic disorder caused by an enzyme deficiency resulting in accumulation of phenylalanine and its metabolites in the blood causing usually severe mental retardation and seizures unless phenylalanine is restricted from the diet beginning at birth —abbreviation PKU

phenylketonuric

play \-ˈu̇r-ik, -ˈyu̇r-\ noun or adjective

Origin and Etymology of phenylketonuria

New Latin, from International Scientific Vocabulary phenyl + ketone + New Latin -uria


First Known Use: 1935


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

to decrease in size, extent, or degree

Get Word of the Day daily email!

WORD GAMES

Take a 3-minute break and test your skills!

  • alphabet-magnets
  • Which is the correct spelling?
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