Alkaptonuria: Symptoms & Signs, Diagnosis & Tests

Symptoms & Signs

Urine in an infant’s diaper may darken and can turn almost black after several hours. However, many persons with this condition may not know they have it until mid-adulthood (around age 40), when joint and other problems occur.

Symptoms may include:

* Arthritis (especially of the spine) that gets worse over time
* Darkening of the ear
* Dark spots on the white of the eye (sclera) and cornea

Diagnosis & Tests

A urine test (urinalysis) is done to test for alkaptonuria. If ferric chloride is added to the urine, it will turn the urine a black color in patients with this condition.

Alkaptonuria: Overview, Causes

Alkaptonuria: Symptoms & Signs, Diagnosis & Tests

Alkaptonuria: Treatment


Review Date : 4/15/2009
Reviewed By : Chad Haldeman-Englert, MD, Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc
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