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Med School Chat Brasil -- Med School Helpful Terms
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Dictionary
Term
Inborn aminoacidopathy due to defective homogentisate 1,2-dioxygenase. The accumulation of homogentisic acid leads to homogentisic aciduria causing the urine to turn dark brown on standing or alkalinization. Other characteristics include ochronosis and arthritis Usual course - asymptomatic until adulthood; progressive.
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