![]() During infancy, diapers may be stained black (from urine exposure to air), although this is often missed or ignored. However, since this change often takes several hours, it often goes unnoticed. The urine of individuals with alkaptonuria may be abnormally dark or it may turn black upon long-standing exposure to the air. Symptoms are generally slowly progressive. However, additional symptoms usually do not appear until adulthood. ![]() Mutations in the HGD gene cause alkaptonuria.Īlkaptonuria is a genetic disorder, and urine that turns dark is present from birth. The HGD gene codes for the enzyme required for the breakdown of homogentisic acid. In adulthood, affected individuals also develop progressive arthritis of the spine and large joints. In some cases, the whites of the eyes (sclera) may also become discolored. Affected individuals may develop discoloration of the skin overlying cartilage within the body such as over part of the outer ear. Affected individuals eventually develop ochronosis, which is the bluish-black discoloration of connective and other tissue within the body. 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. However, this change may not occur for several hours after urination and often goes unnoticed. Affected individuals may have dark urine or urine that turns black when exposed to air. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Stay Informed With NORD’s Email NewsletterĪlkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. ![]()
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