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.
How do members experience alkaptonuria?
Top 5 symptoms reported by people with alkaptonuria*
*Reports may be affected by other conditions and/or medication side effects. We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition.
Top treatments taken by people for alkaptonuria*
*Data from patients with alkaptonuria, who have ever reported treatments, ordered by their reporting frequency during the last 5 years.
Compare treatments taken by people with alkaptonuria*
*Data from patients with alkaptonuria, who have ever reported treatments, ordered by their reporting frequency during the last 5 years.
Who has alkaptonuria on PatientsLikeMe?
Age
| Age | Proportion | # of patients |
|---|---|---|
| <20 | 10 | |
| 20s | 13 | |
| 30s | 26 | |
| 40s | 40 | |
| 50s | 43 | |
| 60s | 51 | |
| 70+ | 40 |
Distribution of sex
Sex
| Sex | Proportion | # of patients |
|---|---|---|
| Male | 114 | |
| Female | 108 |
Talk to people with alkaptonuria
237
237
members say they have this condition
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Endocrine, Metabolism and Nutrition,Kidneys and Urinary
