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Phenylketonuria is most often called PKU. Proteins in your food are made of small building blocks. These are amino acids. Your body uses enzymes to change the amino acids into something the body can use. With PKU, one of the enzymes is missing. The missing enzyme is supposed to break down the amino acid phenylalanine. Without the enzyme, phenylalanine builds up in your blood. Then, it may cause problems like brain damage or severe mental retardation.

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