Definition
Alkaptonuria is a metabolic disease characterized by homogentisate dioxygenase enzyme deficiency, darkening of the urine on contact with air and ochronosis.
Symptoms
- Darkening of urine
- Ochronosis
- Arthritis
- Cardiac valve involvement
Reasons
HGD gene mutation.
Diagnosis
Urine homogentisic acid, genetic testing.
Treatment
Nitisinone, symptomatic treatment.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of acute arthritis attacks, emergency services should be consulted.
This page is for general information purposes only.