Question
Alkaptonuria
Answer :
Word Count : 266
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Alkaptonuria is a rare inherited disorder of amino acid metabolism caused by a defect in the catabolic pathway of phenylalanine and tyrosine. It results from a deficiency of the enzyme homogentisate oxidase, which normally catalyzes the conversion of homogentisic acid into maleylacetoacetic acid in the tyrosine degradation pathway. Due to the absence or inactivity of this enzyme, homogentisic acid accumulates in the body and is excreted in large amounts
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