Question

The nurse is changing the diaper on a newborn and notices that there is a musty smell to the infant's urine. This finding is a characteristic sign of which disorder?

Answer 1

A musty smell in a newborn's urine can be a sign of phenylketonuria (PKU), a metabolic disorder resulting from the inability to break down the amino acid phenylalanine.

Step-by-step explanation:

When a nurse changes the diaper on a newborn and notices a musty smell to the infant's urine, this finding can be a characteristic sign of a metabolic disorder known as phenylketonuria (PKU). PKU is a rare condition caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine, an amino acid. Infants with PKU cannot process this amino acid properly, leading to its accumulation in the body, which can cause the characteristic musty or mousy odor in the urine. Without treatment, PKU can lead to intellectual disabilities, behavioral problems, and seizures.