alkaptonuria

American  

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

noun

Pathology.

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

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Etymology

Origin of alkaptonuria

First recorded in 1885–90; alkapton + -uria

Example Sentences

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

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

From Slate • Jul. 9, 2012

Garrod realized that someone so young had almost certainly inherited alkaptonuria.

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

Happily, the alkaptonuria work proved that the same laws of genetics applied to humans.

From Slate • Jul. 9, 2012