Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-di oxygenase. It results in excessive excretion of homogentisic acid in the urine, ochronosis, and debilitating arthritis of the spine and large joints. In this report 25-year male presented with darkening of urine and under garments. Lab findings are compatible with the diagnosis of Alkaptonuria. Treatment was initiated and patient is on follow up.
Journal of Nephrology and Urology received 22 citations as per Google Scholar report