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Alkaptonuria


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Alkaptonuria

Alternative Names:

Alcaptonuria; Homogentisic acid oxidase deficiency; Ochronosis
Symptoms:

Infant or child:

  • Family history of alkaptonuria
  • Urine in diaper may darken after several hours (can become almost black)
Adult:
  • Progressive arthritis, especially of the spine
  • Darkening of the ear (from black staining of the cartilage in the ear)
  • Dark spots on the sclera (white of the eye) and cornea

Signs and tests:

Urinalysis is positive for reducing substance. Further urine testing shows a positive ferric chloride test.
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