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

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 with alkaptonuria

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

(Cannabidiol CBD oil)
Type
Other
How many have tried
1
Tried for
anxious mood (1) pain (1)
Treatment name(s)

(Neurontin)
Type
Prescription Drug
How many have tried
1
Tried for
alkaptonuria (1)
Treatment name(s)
Type
Surgery
How many have tried
1
Tried for
alkaptonuria (1)
Treatment name(s)

(Orfadin)
Type
Prescription Drug
How many have tried
1
Tried for
alkaptonuria (1)
Treatment name(s)

(Shoulder arthroplasty (left))
Type
Surgery
How many have tried
1
Tried for
alkaptonuria (1)
Treatment name(s)
Type
Surgery
How many have tried
1
Tried for
alkaptonuria (1)
Type
Surgery
How many have tried
1
Tried for
alkaptonuria (1)
Treatment name(s)
Type
Surgery
How many have tried
1
Tried for
alkaptonuria (1)
Treatment name(s)

(Ultram)
Type
Prescription Drug
How many have tried
1
Tried for
alkaptonuria (1) pain (1)
Treatment name(s)

(Raw food vegetarian diet)
Type
Nutrition/Diet
How many have tried
1
Tried for
alkaptonuria (1)

Data from patients with alkaptonuria, who reported starting treatments within 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)

(Cannabidiol CBD oil)
Perceived effectiveness
No evaluations
Side effects
No evaluations
Total evaluations
0
Tried for
anxious mood (1) pain (1)
Treatment name(s)

(Neurontin)
Perceived effectiveness
No evaluations
Side effects
No evaluations
Total evaluations
0
Tried for
alkaptonuria (1)
Treatment name(s)
Perceived effectiveness
for alkaptonuria (1 evaluation)
Side effects
Total evaluations
1
Tried for
alkaptonuria (1)
Treatment name(s)

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

(Shoulder arthroplasty (left))
Perceived effectiveness
No evaluations
Side effects
No evaluations
Total evaluations
0
Tried for
alkaptonuria (1)
Treatment name(s)
Perceived effectiveness
No evaluations
Side effects
No evaluations
Total evaluations
0
Tried for
alkaptonuria (1)
Perceived effectiveness
No evaluations
Side effects
No evaluations
Total evaluations
0
Tried for
alkaptonuria (1)
Treatment name(s)
Perceived effectiveness
No evaluations
Side effects
No evaluations
Total evaluations
0
Tried for
alkaptonuria (1)
Treatment name(s)

(Ultram)
Perceived effectiveness
for alkaptonuria (1 evaluation)
Side effects
effective antidepressant
Total evaluations
1
Tried for
alkaptonuria (1) pain (1)
Treatment name(s)

(Raw food vegetarian diet)
Perceived effectiveness
for alkaptonuria (1 evaluation)
Side effects
Total evaluations
1
Tried for
alkaptonuria (1)
  • Major
  • Moderate
  • Slight
  • None
  • Can't tell
  • Severe
  • Moderate
  • Mild
  • None

Data from patients with alkaptonuria, who reported starting treatments within the last 5 years.
Last updated:

Who has alkaptonuria on PatientsLikeMe?


Age
Age Proportion # of patients
<20 15
20s 15
30s 32
40s 39
50s 44
60s 35
70+ 24
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 104
Female 102

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
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