Alkaptonuria
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What is alkaptonuria?
Alkaptonuria is a rare autosomal recessive disorder caused by homogentisic acid oxidase deficiency, a substance that is part of tyrosine metabolism. Homogentisic acid oxidation products accumulate in and darken skin, and crystals precipitate in joints. Urine exposed to air takes on a dark color.
Common symptoms reported by people with alkaptonuria
Treatments taken by people for alkaptonuria
Let’s build this page together! When you share what it’s like to have alkaptonuria through your profile, those stories and data appear here too.
Got a question about living with alkaptonuria? Members in the forum might have the answers.
Compare treatments taken by people with alkaptonuria
Let’s build this page together! When you share what it’s like to have alkaptonuria through your profile, those stories and data appear here too.
Got a question about living with alkaptonuria? Members in the forum might have the answers.
Who has alkaptonuria on PatientsLikeMe?
- 0 new patients joined this month
- 220 say alkaptonuria is their primary condition
| Age | Proportion | # of patients |
|---|---|---|
| <20 | 13 | |
| 20s | 13 | |
| 30s | 27 | |
| 40s | 41 | |
| 50s | 43 | |
| 60s | 50 | |
| 70+ | 28 |
| Age at first symptom | Proportion | # of patients |
|---|---|---|
| 0-19 years | 43 | |
| 20-29 years | 6 | |
| 30-39 years | 25 | |
| 40-49 years | 7 | |
| 50-59 years | 0 | |
| 60-69 years | 0 | |
| 70+ years | 0 |
Distribution of sex
| Sex | Proportion | # of patients |
|---|---|---|
| Male | 109 | |
| Female | 108 |
| Diagnosis status | Proportion | # of patients |
|---|---|---|
| Diagnosed | 99 | |
| Not Diagnosed | 2 |