Alkaptonuria is a metabolic disease caused by a defect in or lack of homogentisic acid oxidase which lead to
Alkaptonuria (Black urine disease) Alkaptonuria has great historical impoance. It was first described by Lusitanus in 1649 and characterized in 1859. Garrod conceived the idea of inborn errors of metabolism from his observation on alkaptonuria. The prevalance of this autosomal recessive disorder is 1 in 25,000. Enzyme defect : The defective enzyme in alkaptonuria is homogentisate oxidase in tyrosine metabolism. Homogentisate accumulates in tissues and blood, and is excreted into urine. Homogentisate, on standing, gets oxidized to the corresponding quinones, which polymerize to give black or brown colour. For this reason, the urine of alkaptonuric patients resembles coke in colour. Ref : Biochemistry by U. Satyanarayana 3rd edition Pgno :352
Absent patella
Blue sclera
Darkly pigmented sclera cornea & ear
Absent radii
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