Disease Information for Alkaptonuria/Ochronosis: Definition

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  • Alkaptonuria;Alcaptonuria (alternate spelling for Alkaptonuria);Alkaptonuric Ochronosis;Hereditary Alkaptonuria; Homogentisic Acid Oxidase Deficiency; Homogentisic Acidura; Ochronosis ;Ochronotic Arthritis; Alkaptonuria is a rare hereditary disorder in which homogentisic acid accumulates in the body and destroys connective tissue and bone, creating a condition called ochronosis; Symptoms generally begin during the second or third decade of life, and may progress to incapacitating bone and joint disease by the sixth to eighth decade of life; The condition is characterized by the excretion of large volumes of dark colored urine; The darkened urine is the result of the exposure to the air of homogentisic acid that accumulates in the urine----------[NORD 2005]-------

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