alkaptonuria
|al-kap-to-nu-ri-a|
🇺🇸
/ˌæl.kæp.toʊˈnʊr.i.ə/
🇬🇧
/ˌæl.kæp.təˈnjʊə.ri.ə/
metabolic disorder
Etymology
'alkaptonuria' originates from the combination of 'alkapton' and the suffix '-uria', where 'alkapton' refers to the substance homogentisic acid, and '-uria' indicates a condition related to urine.
'alkaptonuria' was coined in the early 20th century to describe the condition characterized by darkened urine due to homogentisic acid accumulation.
Initially, it referred to the presence of dark urine, but over time it evolved to encompass the broader metabolic disorder involving joint and tissue damage.
Meanings by Part of Speech
Noun 1
a rare inherited disorder characterized by the accumulation of homogentisic acid, leading to darkened urine and potential joint and tissue damage.
Patients with alkaptonuria often experience joint pain and stiffness.
Noun 2
a metabolic disorder caused by a deficiency of the enzyme homogentisate 1,2-dioxygenase.
Alkaptonuria is diagnosed through urine tests that detect elevated levels of homogentisic acid.
Last updated: 2025/06/24 06:21