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Alkaptonuria

Alternative Names:

AKU; Alcaptonuria; Homogentisic acid oxidase deficiency; Alcaptonuric ochronosis

Symptoms:

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:

Signs and 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.

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