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ochronotic arthropathy
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ochronotic arthropathy

pathology
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Quick Summary

Ochronotic arthropathy is a rare, inherited metabolic disorder characterized by the pigmentation and degeneration of cartilage. This condition arises from a defect in the breakdown of the amino acids tyrosine and phenylalanine, leading to an accumulation of homogentisic acid in the body. This excess homogentisic acid causes urine to turn black upon exposure to air, a condition known as alkaptonuria. Over time, this pigment deposition leads to severe degenerative changes in the peripheral joints and spine. It is a type of connective tissue disease.12

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2 Britannica Sources
  1. connective tissue disease - Hereditary disorders of connective tissue
  2. joint disease - Congenital and hereditary abnormalities

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