alkaptonuria

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

Phonetic (Standard)IPA

noun

Pathology.

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

Discover More

First recorded in 1885–90; alkapton + -uria

Discover More

Examples have not been reviewed.

Asked if he had any medical conditions, he explained his alkaptonuria, a rare, progressive genetic disease that causes pain in the joints.

From

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

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

From

Browse