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 11
20s 12
30s 27
40s 40
50s 40
60s 51
70+ 43

Distribution of sex

Sex

Sex Proportion # of patients
Male 114
Female 109

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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

Common symptoms
How bad it is
What people are taking for it

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.
Last updated:



Treatments taken by people for alkaptonuria

Treatment name(s)
Type
How many have tried
Tried for
Treatment name(s)

(Orfadin)
Type
Prescription Drug
How many have tried
34
Tried for
alkaptonuria (1)

Data from patients with alkaptonuria, who have ever reported treatments, ordered by their reporting frequency during the last 5 years.
Last updated:


Compare treatments taken by people with alkaptonuria

Treatment name(s)
Perceived effectiveness
Side effects
Total evaluations
Tried for
Treatment name(s)

(Orfadin)
Perceived effectiveness
No evaluations
Side effects
No evaluations
Total evaluations
0
Tried for
alkaptonuria (1)
  • Major
  • Moderate
  • Slight
  • None
  • Can't tell
  • Severe
  • Moderate
  • Mild
  • None

Data from patients with alkaptonuria, who have ever reported treatments, ordered by their reporting frequency during the last 5 years.
Last updated:



Who has alkaptonuria on PatientsLikeMe?

  • 1 new patients joined this month
  • 229 say alkaptonuria is their primary condition

Age
Age Proportion # of patients
<20 11
20s 12
30s 27
40s 40
50s 40
60s 51
70+ 43
Age at first symptom
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
Sex Proportion # of patients
Male 114
Female 109

Diagnosis status
Diagnosis status Proportion # of patients
Diagnosed 99
Not Diagnosed 2

These charts show data from alkaptonuria patients who have completed their condition history
Last updated: