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What is phenylketonuria disorder?

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

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