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Showing results for alkaptonuria. Search instead for alcaptonuria.

alkaptonuria

American  
[al-kap-tuh-noor-ee-uh, -nyoor-] / ælˌkæp təˈnʊər i ə, -ˈnjʊər- /

noun

Pathology.
  1. excessive excretion of homogentisic acid in the urine, caused by a hereditary abnormality of the metabolism of tyrosine and phenylalanine.


Etymology

Origin of alkaptonuria

First recorded in 1885–90; alkapton + -uria


Example Sentences

Examples are provided to illustrate real-world usage of words in context. Any opinions expressed do not reflect the views of Dictionary.com.

See Examples For:

Asked if he had any medical conditions, he explained his alkaptonuria, a rare, progressive genetic disease that causes pain in the joints.

From BBC ● Sep. 28, 2022

Bateson’s letter explained to Garrod that alkaptonuria fit the pattern for recessive genetic disorders, which are caused by inheriting two defective copies of a gene.

From Slate ● Jul. 9, 2012

Garrod noticed clusters of alkaptonuria in certain families, and assumed something in their environment or diet caused it.

From Slate ● Jul. 9, 2012

Garrod’s clinical observations dovetailed beautifully with Bateson’s theoretical insight, and the alkaptonuria gene became the first gene identified in humans.

From Slate ● Jul. 9, 2012

Around 1900, the English doctor Archibald Garrod began studying cases of alkaptonuria, a disorder that turns people’s urine black when exposed to air.

From Slate ● Jul. 9, 2012

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