Alkaptonuria Black urine disease

  • Facts:
    Deficiency of homogentisic acid oxidase causes large amounts of homogentisic acid to accumulate in the body and then be excreted into the urine
  • History / PE:
    Dark or black urine on standing
    Ochronosis (dark pigment in connective tissue)
  • Diagnosis:
    Homogentisic acid in urine (confirmatory)
  • Differential Diagnosis:
    Phenylketonuria (musty odor urine, blue eyes, fair skin)

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August 6th 2010