Alternate Names : AKU, Alcaptonuria, Homogentisic acid oxidase deficiency, Alcaptonuric ochronosis
Symptoms & Signs
Urine in an infant's diaper may darken and can turn almost black after several hours. However, many persons with this condition may not know they have it until mid-adulthood (around age 40), when joint and other problems occur.
Symptoms may include:
- Arthritis (especially of the spine) that gets worse over time
- Darkening of the ear
- Dark spots on the white of the eye (sclera) and cornea
Diagnosis & Tests
A urine test (urinalysis) is done to test for alkaptonuria. If ferric chloride is added to the urine, it will turn the urine a black color in patients with this condition.