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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

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

Indeed, Bateson and others had long been working to undermine Darwinism, and felt emboldened by the alkaptonuria finding.

From Slate Jul. 9, 2012

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

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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