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Alkaptonuria - Symptom

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:

  • Progressive arthritis, especially of the spine
  • Darkening of the ear
  • Dark spots on the white of the eye (sclera) and cornea

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.

  • Reviewed last on: 7/2/2007
  • Brian Kirmse, M.D., Department of Human Genetics, Mount Sinai School of Medicine, New York, NY. Review provided by VeriMed Healthcare Network.
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