Phenylketonuria also referred to as PKU: Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine. Children with PKU must follow a diet that limits phenylalanine, which is found mostly in foods that contain protein. Children with PKU often have fair skin and light eyes because phenylalanine cannot transform into melanin, causing a lack of pigment. Babies in the United States and many other countries are screened for phenylketonuria soon after birth; however this is not a standard test in many other countries around the world. A child in an institutionalized setting may not have a diagnosis of PKU and will be fed a regular diet. It is only after symptoms present themselves later that testing may be conducted and an appropriate diet applied. This delay in treatment could cause significant long-term effects such as seizures, developmental delays, hyperactivity, or small head size.
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