Journal of Clinical Nutrition and Metabolism

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Phenylketonuria (PKU)

Phenylketonuria (PKU) is an inborn defect of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated, PKU can lead to intellectual disability, seizures, behavioural problems, and mental disorders. It may also result in a musty smell and lighter skin. A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight

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