phenylketonuria (pku) is a genetic disorder in which
Phenylketonuria Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine.[3] Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders.[1] It may also result in a musty smell and lighter skin.[1] Babies born to mothers who have poorly treated PKU may have heart problems, a small head, and low birth weight.[1]