Alkaptonuria – A Guide to Diagnosis

Alkaptonuria, a rare genetic metabolic disorder resulting from excess homogentisic acid in the body, affects all kinds of people, though symptoms tend to become more severe in males.

Symptoms include: dark urine, discoloration of skin and eyes, and arthritis. In some cases, heart disease may develop as a result of acid accumulation within heart valves. Unfortunately, individuals with alkaptonuria often remain unaware of their condition for a while, as symptoms develop during adulthood. Identification of symptoms is a huge part of the diagnosis process, though patient history, clinical evaluation, and various specialized tests are also required.

Treatment is aimed at specific symptoms and ranges from anti-inflammatory medications to narcotics. Some individuals are recommended physical and occupational therapy to strengthen muscles and joints.

In some cases, individuals undergo surgery for hip, knee, or shoulder joint replacement.

According to Dr. Seth Schwartz, an ENT specialist, alkaptonuria can be identified early on in ear wax, so if you’ve had urine and blood tests that came out negative for this disease, and you still suspect you have it, ask your doctor to examine your ear wax for a possible diagnosis.


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