Alcaptonuria (Noun)
Meaning
A rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine.
Classification
Nouns denoting natural processes.
Examples
- Alcaptonuria is a rare genetic disorder characterized by the accumulation of homogentisic acid in the body, leading to the darkening of connective tissue and urine.
- The symptoms of alcaptonuria typically begin in late childhood or early adulthood, with joint pain and discoloration of the urine being common complaints.
- In patients with alcaptonuria, the buildup of homogentisic acid can lead to ochronosis, a condition marked by the bluish-black pigmentation of connective tissue.
- Due to its rarity, alcaptonuria often goes undiagnosed until the symptoms become severe, at which point joint replacement surgery may be necessary.
- Treatment for alcaptonuria typically focuses on managing the associated symptoms, such as joint pain and urinary discoloration, as a cure for the underlying condition has not been found.