The primary care pediatric nurse practitioner notes a musty odor when examining a newborn at a 2-week checkup. What will the nurse practitioner suspect?

Question

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The musty odor in a newborn can indicate phenylketonuria (PKU), a genetic disorder that impairs the body's ability to break down the amino acid phenylalanine. If left untreated, high levels of phenylalanine can lead to developmental delays and intellectual disability. Testing for PKU is part of routine newborn screening in most countries.

The Primary Care Pediatric Nurse Practitioner Notes a Musty Odor