OMIM = Online Medalian Inheritance of Men
  • low-protein diet
  • no specific treatment
  • vitamin C (ascorbate)
rare, 1:100000 - 1:1000000, 1:19000 in Slovakia,
autosomal recessive
mutation in the homogentisate 1,2-dioxygenase gene
brown or dark colored urine was not observed in all patients multi-system involvement with ochronotic arthropathy
brown or black colored urine
heart involvement
onset, adulthood
Organic acids, urine
pain, bones or joints
pigmentation, skin and sclera
urolithiasis, kidney stones
X-ray, abnormalities
laboratory finding
Homogentisic acid1000.005000.000.001.00mmol/mol creatinineurine
Homogentisic acid oxidase 100.00decreased activityliver
Ferric chloride reaction blue-greenurine
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