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*

Treatment
Perceived effectiveness
Side effects
Total evaluations
Tried for
Treatment

(Orfadin)
Perceived effectiveness
No evaluations
Side effects
No evaluations
Total evaluations
0
Tried for
alkaptonuria (1)

*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 16
30s 27
40s 39
50s 43
60s 52
70+ 35

Distribution of sex

Sex

Sex Proportion # of patients
Male 113
Female 108