AbstractAlkaptonuria is a rare metabolic autosomal recessive disorder caused by deficiency of homogentisic acid oxidase [1]. A three old female child presented with history of staining of diaper since birth and during treatment underwent battery of scanning and investigations. Diagnosis was suspected when urine turned black when kept in a sterile container. Her urine examination showed homogentisic acid. Patient was diagnosed alkaptonuria.
Keywords: Genetic Disorder; Alkaptonuria.