Pigment

Alkaptonuria

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Alkaptonuria, Ochronosis

  • See Also
  1. Skin Discoloration
  • Pathophysiology
  1. Rare, Autosomal Recessive genetic disorder
  2. Accumulation of homogentisic acid (due to disrupted metabolism of Phenylalanine and Tyrosine)
  3. Deposition in connective tissue (skin, joints), as well as Kidneys and Cardiovascular System
  • Findings
  1. Blue-gray skin pigmentation develops by age 30-60 years
  2. Arthropathy is common due to joint deposition
  • References
  1. Gauer (2026) Am Fam Physician 113(5): 495-6 [PubMed]