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Alkaptonuria
Background
Alkaptonuria (AKU) is a rare metabolic disorder, which was first described in 1902 by Sir Archibald Garrod. The three major features of the condition are arthritis (see entry Arthritis [Adult]), bluish-black pigmentation in connective tissue and urine that turns black when exposed to air. Individuals are affected differently by the range and severity of features. AKU is found in all populations, however, it is especially frequent in individuals of Slovaks or Dominican republic descent. The condition affects males and females equally. Individuals are not usually aware of AKU until their thirties and forties when symptoms become apparent. Children and young adults are usually asymptomatic (show no symptoms of the condition).
