How might alkaptonuria be treated?

There is no cure for alkaptonuria, but there is treatment for some individual signs and symptoms of the condition. Joint pain may be substantial in individuals with alkaptonuria, and close attention to pain control is usually necessary. Physical and occupational therapy can be important to promote muscle strength and flexibility. Knee, hip, and shoulder replacement surgeries may be options for managing significant arthritis. In general, however, the goal of joint replacement is pain relief rather than increased range of motion. Maintaining joint range of motion through moderate non-weight-bearing exercise such as swimming may have beneficial effects. Treatment of prostate stones and renal stones may include surgery.

No therapy has proven to prevent or correct the pigmentary changes of ochronosis.

Dietary restriction of phenylalanine and tyrosine has been proposed to reduce the production of HGA, but severe restriction of these amino acids is not practical in the long term and may be dangerous.

Last updated on 05-01-20

Name: Metabolic Support UK 5 Hilliards Court Sandpiper Way
Chester Business Park
Chester, CH4 9QP, United Kingdom
Phone: 0845 241 2173 Toll Free: 0800 652 3181 Email: Url:
Name: The Alkaptonuria Society 66 Devonshire Road Cambridge, CB1 2BL
United Kingdom
Phone: +44 (0)1223 322897 (9am - 5pm GMT) Email: Url:
Name: AKU Society of North America 10451 Roselle Street #300
San Diego, CA, 92121,
Phone: (800) 549-8110 Url:
Name: Genetic Testing Registry GTR Url:
Alkaptonuria National Organization for Rare Disorders (NORD). Updated 2017; Reference Link

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