Definition of Alkaptonuria

Reviewed on 3/29/2021

Alkaptonuria: A genetic metabolic disorder due to deficiency of the enzyme homogentisic acid (HGA) dioxygenase. Deficiency of this enzyme leads to the three cardinal features of alkaptonuria (the presence of homogentisic acid in the urine), ochronosis (bluish-black pigmentation in connective tissue), and arthritis. Urine that turns dark is a characteristic feature.

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