phenylketonuria

noun phe·nyl·ke·ton·uria \ ˌfe-nᵊl-ˌkē-tᵊn-ˈu̇r-ē-ə , ˌfē- , -ˈyu̇r- \
|Updated on: 22 Jun 2018

Definition of phenylketonuria

: 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 \ˌfe-nᵊl-ˌkē-tᵊn-ˈu̇r-ik, -ˈyu̇r-\ noun or adjective

Recent Examples of phenylketonuria from the Web

These example sentences are selected automatically from various online news sources to reflect current usage of the word 'phenylketonuria.' Views expressed in the examples do not represent the opinion of Merriam-Webster or its editors. Send us feedback.

Origin and Etymology of phenylketonuria

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


Medical Dictionary

phenylketonuria

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

medical Definition of phenylketonuria

: 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).

Love words? Need even more definitions?

Subscribe to America's largest dictionary and get thousands more definitions and advanced search—ad free!

WORD OF THE DAY

a lighting electrician on a movie set

Get Word of the Day daily email!

Test Your Vocabulary

The Eponym Quiz

  • rubens-painting
  • Which is the best synonym of bowdlerize?
How Strong Is Your Vocabulary?

Test your vocabulary with our 10-question quiz!

TAKE THE QUIZ
Add Diction

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

TAKE THE QUIZ

Love words? Need even more definitions?

Subscribe to America's largest dictionary and get thousands more definitions and advanced search—ad free!