88 top medical experts on Alkaptonuric ochronosis across 12 countries and 5 U.S. states, including 10 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Alkaptonuric ochronosis: Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. The three major features of alkaptonuria are the presence of dark urine, ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, and arthritis of the spine and larger joints. Ochronosis starts after age 30 and arthritis in early adulthood. Other features of this condition can include heart problems, kidney stones, and prostate stones. Alkaptonuria is caused by mutations in the HGD gene . It is inherited in an autosomal recessive fashion.There is still no cure for this disease. Treatment includes the management of joint pain, physical and occupational therapy, joint replacements and surgery when needed.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Support Organizations
- AKU Society of North America
10451 Roselle Street #300
San Diego, CA 92121
Telephone: (800) 549-8110
Website: http://www.akusocietyna.org/
- Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org
- The Alkaptonuria Society
66 Devonshire Road
Cambridge, CB1 2BL
United Kingdom
Telephone: +44 (0)1223 322897 (9am - 5pm GMT)
E-mail: info@akusociety.org
Website: http://www.akusociety.org/
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Social Networking Websites
- RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
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