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Pediatrics Genetic Approach to Pediatric Medicine 615ca28d

Mousy urine in a child is due to defect in conversion of phenlylalanine to -

A
Tyrosine
B
Homogentisic acid
C
Phenyl acetate
D
Phenyl pyruvate
High-Yield Explanation
Ans. is A. Tyrosine Defect in conversion of phenlylalanine to has been asked hence it's tyrosine . If mousy odour is due to is asked then answer will be phenyl acetate . Phenylketonuria o Autosomal recessive o Deficiency of phenylalanine hydroxylase. o Defect in conversion of phenylalanine to tyrosine. o This leads to increase level of phenylalanine, o This increase phenlylalanine converted into phenylpyruvate and phenyl acetate, o This phenyl acetate gives mousy or musty odour in urine/body.

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