Mousy urine in a child is due to defect in conversion of phenlylalanine to -
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.
Tyrosine
Homogentisic acid
Phenyl acetate
Phenyl pyruvate
Genetic Approach to Pediatric Medicine