Is Alkaptonuria serious?
Last updated September 7, 2026.
**Yes, alkaptonuria can cause serious complications over time, but with appropriate medical care, your life expectancy is generally normal.** This inherited condition causes homogentisic acid to build up in your body and gradually damage cartilage and other tissues. Its impact depends on how much your joints, heart valves, and kidneys are affected. You may have few symptoms early in life, then develop back pain, arthritis, or kidney stones in adulthood. Keep regular medical appointments and ask about physical therapy to help you manage pain and maintain movement.
What to do
- **Get evaluated:** Contact your clinician if your urine turns dark brown or black after exposure to air.
- **Plan follow-up:** If you have a confirmed diagnosis, ask what checks your joints, heart, and kidneys need.
- **Manage joint symptoms:** Ask about physical therapy and pain relief suited to your health.
- **Discuss diet changes:** Talk with your clinician or dietitian before restricting protein.
- **Consider genetic counseling:** If alkaptonuria runs in your family, ask about genetic counseling before planning a pregnancy.
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