Mousy odor of urine is seen in –
Correct Answer: Phenylketonuria
Description: Ans. is 'b' i.e.,, Phenyl ketonuria PhenylketonuriaAutosomal recessiveDeficiency of phenylalanine hydroxylase.Defect in conversion of phenylalanine to tyrosine.This leads to increase level of phenylalanine. This increase phenlylalanine converted into phenylpyruvate and phenyl acetate.This phenyl acetate gives mousy or musty odour in urine/body.Sweaty feat odour -Isovaleric academiao In Alkaptanuria - Urine become darkish brown when exposed to air while purplish brown in porphyria.Other point to remember-Smoky sweat - MSUDMousy or Musty - PhenylketonuriaBoiled cabbage - Tyrosinemia
Category:
Pediatrics
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