Full 2L QBank
Pediatrics Genetic and genetic disorders 52941748

Mousy odor of urine is seen in

A
Isovaleric acidemia
B
Phenyl ketonuria
C
MSUD
D
Tyrosinemia
High-Yield Explanation
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

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