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Summary
ALKAPTONURIA. HOMOGENTISIC ACID OXIDASE DEFICIENCY
ALKAPTONURIA ALKAPTONURIA
203500
OMIM = Online Medalian Inheritance of Men
56
3q13.33
  • low-protein diet
  • no specific treatment
  • vitamin C (ascorbate)
rare, 1:100000 - 1:1000000, 1:19000 in Slovakia,
autosomal recessive
brown or dark colored urine was not observed in all patients multi-system involvement with ochronotic arthropathy
symptoms
arthritis
brown or black colored urine
heart involvement
hemolysis
methemoglobinemia
onset, adulthood
Organic acids, urine
osteochronosis
pain, bones or joints
pigmentation, skin and sclera
urolithiasis, kidney stones
uveitis
X-ray, abnormalities
laboratory finding
Homogentisic acid1000.005000.000.001.00mmol/mol creatinineurine
Homogentisic acid oxidase 100.00decreased activityliver
Ferric chloride reaction blue-greenurine
Literature
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