Question

Child with mousy smell in urine is most likely to be diagnosed with?

1) Phenylketonuria
2) Diabetes
3) Urinary tract infection
4) Dehydration

Answer 1

A child with a mousy smell in urine likely has Phenylketonuria (PKU), a metabolic disorder characterized by a deficiency in an enzyme necessary for metabolizing phenylalanine, leading to its accumulation.

Step-by-step explanation:

A child with a mousy smell in their urine is most likely to be diagnosed with Phenylketonuria (PKU). Phenylketonuria is a metabolic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase, which is necessary for the metabolism of the amino acid phenylalanine. Without this enzyme, phenylalanine builds up and can lead to various health issues. A distinguishing characteristic of PKU is the musty or mousy odor present in the urine and sometimes in the breath or skin of affected individuals, due to the accumulation of phenylalanine and its metabolites. Management of PKU typically involves a diet low in phenylalanine to prevent accumulation. It is important to diagnose and treat PKU early to prevent intellectual disability and other complications.