alkaptonuria

[al-kap-tuh-noor-ee-uh, -nyoor-]

noun

Pathology.

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

Word History and Origins

Origin of alkaptonuria¹

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

Nick Sireau’s sons have a rare genetic disease called alkaptonuria, which can lead to body tissues becoming brittle, causing life long health issues.

From Nature

The paper concludes simply: “Nitisinone is a beneficial therapy for alkaptonuria.”

From Nature