Blackening of urine on exposure to atmosphere is observed in:
Correct Answer: Alkaptonuria
Description: Alkaptonuria/Black urine disease/AlcaptonuriaIt is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism.This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase, which paicipates in the degradation of tyrosine.As a result, homogentisic acid and its oxide, called alkapton, accumulate in the blood and are excreted in urine in large amounts (hence -uria).Excessive homogentisic acid causes damage to cailage (ochronosis, leading to osteoahritis) and hea valves as well as precipitating as kidney stones.Treatment with nitisinone, which suppresses homogentisic acid production, is being studied
Category:
Biochemistry
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