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Pediatrics Metabolic disorders 4e9b8c2c

Darkening of urine on standing is associated with

A
Alkaptonuria
B
Cystinuria
C
Fabry's disease
D
Tyrosinemia
High-Yield Explanation
Alkaptonuria is caused by defect of the enzyme homogentisate 1,2-dioxygenase(homogentisic acid oxidase).The disorder comes to attention due to change in colour of urine to brownish black/ staining of diapers.The urine becomes dark on standing,especially if the pH of urine is alkaline,due to the presence of homogentisic acid.Excessive urine homogentisate results in positive reducing substances. Reference:Essential pediatrics-Ghai,8th edition,page no:653.

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