Abstract
Alkaptonuria is the first described autosomal recessive inherited metabolic disorder. Signs and symptoms appear with deposition of homogentisic acid and its metabolites in the connective tissue due to homogentisic acid oxidase deficiency. In this article a case of 7- year old girl is presentedreferred with the complaints of fever and short stature, and diagnosed as a case of alkaptonuria with the guiding diagnostic clue of discoloration of urine.
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