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

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

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

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