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)
Type
Surgery
How many have tried
2
Tried for
alkaptonuria (2)
Treatment name(s)

(Orfadin)
Type
Prescription Drug
How many have tried
2
Tried for
alkaptonuria (2)
Treatment name(s)
Type
Surgery
How many have tried
2
Tried for
alkaptonuria (2)
Treatment name(s)

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

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

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

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

(Percocet)
Type
Prescription Drug
How many have tried
1
Tried for
pain (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)

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)
Perceived effectiveness
for alkaptonuria (1 evaluation)
Side effects
Total evaluations
1
Tried for
alkaptonuria (2)
Treatment name(s)

(Orfadin)
Perceived effectiveness
for alkaptonuria (1 evaluation)
Side effects
Total evaluations
1
Tried for
alkaptonuria (2)
Treatment name(s)
Perceived effectiveness
for alkaptonuria (1 evaluation)
Side effects
Hospitalization pain in knee(s)
Total evaluations
1
Tried for
alkaptonuria (2)
Treatment name(s)

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

(Voltaren Gel)
Perceived effectiveness
for pain (1 evaluation)
Side effects
rash on legs weight gain
Total evaluations
1
Tried for
pain (1)
Treatment name(s)

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

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

(Percocet)
Perceived effectiveness
for pain (1 evaluation)
Side effects
drowsiness
Total evaluations
1
Tried for
pain (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)
  • 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 17
30s 24
40s 36
50s 45
60s 32
70+ 21
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 96
Female 95

Diagnosis status
Diagnosis status Proportion # of patients
Diagnosed 100
Not Diagnosed 2

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