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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Alkaptonuria


Other Names for this Disease

  • AKU
  • Alcaptonuria
  • Alkaptonuric ochronosis
  • Homogentisic acid oxidase deficiency
  • Homogentisic acidura
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Questions Answered


2 question(s) from the public on this disease have been answered. Submit a new question.
  • My husband, now 44 years of age, was diagnosed with alkaptonuria 10 years ago. Until recently, he experienced discoloration of the urine, occasional stiff joints, and rupture of tendons. Now he is having breathing problems and stomach issues. Are these symptoms related to alkaptonuria? Are there any treatments for this condition? Are there dietary guidelines for individuals with alkaptonuria? Click here for answer

  • My brother was diagnosed with ochronosis, and he has alkaptonuria. He was told that there are no treatments for this condition. Do you know of any treatments available? Click here for answer

Other Names for this Disease
  • AKU
  • Alcaptonuria
  • Alkaptonuric ochronosis
  • Homogentisic acid oxidase deficiency
  • Homogentisic acidura
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.