Mousy odour urine is seen in:
Correct Answer: Phenylketonuria
Description: Phenylketonuria is caused by deficiency of phenylalanine hydroxylase & /or dihydrobiopterin (BH2) reductase, which regenerates BH4 from BH2. It presents with mousy (musty) odour in urine and emerald green colour in FeC13 test. The aim of first line therapy is to limit the substrate (i.e. phenylalanine) for deficient enzyme
Category:
Biochemistry
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