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.

---

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

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

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

From Slate • Jul. 9, 2012