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Alkaptonuria

Disease definition

Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).

ORPHA:56

  • Synonym(s):
    • Hereditary ochronosis
    • Homogentisic acid oxidase deficiency
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult, Infancy
  • ICD-10: E70.2
  • OMIM: 203500
  • UMLS: C0002066  C2931645
  • MeSH: C537862  D000474
  • GARD: 5775
  • MedDRA: 10001689

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