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Alkaptonuria

Alkaptonuria is a rare inherited genetic disease which is caused by a mutation in the HGDgene for the enzymehomogentisate 1,2-dioxygenase (EC1.13.11.5); if a person inherits an abnormal copy from both parents (it is a recessive condition), the body accumulates an intermediate substance called homogentisic acid in the blood and tissues.

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