Alkaptonuria is a rare, hereditary, metabolic disease in which homogentisic acid, an intermediary product in the metabolism of phenylalanine and tyrosine, cannot be further metabolized. The metabolic defect causes a characteristic triad of homogentisic aciduria, ochronosis, and arthritis. The cause
Alkaptonuria is a rare disease of phenylalanine, aromatic amino acids, and tyrosine metabolism. Because of a genetic deficiency of the enzyme homogentisic acid oxidase, an accumulation of homogentisic acid causes ochronotic pigment deposition. The most common clinical manifestations are arthropathy,
Ochronosis is the blue-gray discoloration of collagen-containing tissues due to homogentisic acid (HGA) deposition, secondary to endogenous alkaptonuria or exogenous enzyme inhibition. In renal disease, accumulation of HGA in serum can cause methemoglobinemia. A 60-year-old woman with renal disease
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