National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Alkaptonuria is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may have dark urine or urine that turns black when exposed to air. However, this change may not occur for several hours after urination and often goes unnoticed. Aside from dark urine that is present from infancy, affected individuals generally do not develop symptoms (asymptomatic) during infancy or childhood and often remain unaware of their condition until adulthood. Affected individuals eventually develop ochronosis, which is the bluish-black discoloration of connective and other tissue within the body. Affected individuals may develop discoloration of the skin overlying cartilage within the body such as over part of the outer ear. In some cases, the whites of the eyes (sclera) may also become discolored. In adulthood, affected individuals also develop progressive arthritis of the spine and large joints. The HDG gene codes for the enzyme required for the breakdown of homogentisic acid. Mutations in HDG cause alkaptonuria.
CLIMB (Children Living with Inherited Metabolic Diseases)
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NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
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Genetic and Rare Diseases (GARD) Information Center
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AKU Society of North America
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San Diego, CA 92121
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 3/20/2014
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