Alkaptonuria diagnosed in a one year old boy: a case report

Introduction Alkaptonuria is an autosomal recessive disorder with an estimated incidence of 1 in 250,000 to 1 million live births. Due to a deficiency of the enzyme homogentisic acid oxidase (HGO), homogentisic acid (HGA) cannot be further metabolized and results in accumulation of HGA and its oxidative metabolites in blood, connective tissue and urine, causing a triad of homogentisic aciduria, ochronosis and arthritis. We report a case which was biochemically confirmed by quantifying HGA in urine.