Alkaptonuric ochronosis

A buildup of dark pigment (ochronosis) in connective tissues such as cartilage,skin, or eyes due to alkaptonuria (OMIM: 203500 ). It usually occurs after age 30 and individuals may also develop arthritis in the spine and large joints in early adulthood. Other features can include heart problems, kidney stones, and prostate stones.

Also Known As:

Exogenous ochronosis; Ocular ochronosis; Pseudo-ochronosis

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Amino Acid Metabolism: 1
      - Alkaptonuria: 502
        Alkaptonuric ochronosis: 89
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Amino Acid Metabolism: 1
      - Alkaptonuria: 502
        Alkaptonuric ochronosis: 89
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10385
  - Ochronosis: 225
    - Alkaptonuric ochronosis: 89

Nyomudim Essen Selected Research

Nyomudim Essen Research Topics

Disease

Drug/Important Bio-Agent (IBA)