Total Knee and Hip Reconstruction in Male Patient with Alkaptonuria with 3 Years of follow up: Case Report and Review of the Literature

Alcaptonuria is an extremely rare metabolic disease and is defined as an autosomal recessive inherited deficiency of the hepatic enzyme oxidase of the homogentisic acid [1,2] (Figure 1). Deficiency of the enzyme causes accumulation of the homogentisic acid in the cells and the body fluids. The disease is characterized by the following three specific conditions, excretion of homogentisic acid in the urine, arthritis and ochronosis. Homogentisic acid accumulates and is polymerized into a blueblack pigment that is ultimately deposited in the skin, cartilage and collagenous tissues. Specifically, pigment deposition can be seen in skin, bones, articular cartilages, ear and sclera, heart endocardium and valves, and kidneys (the so called ochronosis) [3]. The accumulation eventually causes severe degeneration of the spine and peripheral joints, like knees, hips and shoulders.