Mousy odor of urine is seen in
Correct Answer: Phenyl ketonuria
Description: Children with classic phenyl ketonuria have an unpleasant odour of urine due to presence of phenylacetic acid,which is often described as musty or mousey. Phenylketonuria is due to deficiency of enzyme phenylalanine hydroxylase or of its cofactor tetra hydro biopterin. Reference: Nelson TB of pediatrics pg 418 edit
Category:
Pediatrics
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