Phenylketonuria screening: clearly beneficial

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Newborn babies are routinely screened for an inherited disease called phenylketonuria (PKU). Babies with PKU are unable to process phenylalanine, a substance which is present in everyday foods such as milk, meat, fish, and eggs.

If the condition is left untreated, phenylalanine accumulates in the blood and leads to serious, irreversible, brain damage. PKU testing involves taking a few drops of blood from the baby’s heel, which are analyzed in a laboratory.

If this ‘heel prick test’ is positive, and the diagnosis is confirmed by further tests, babies are treated with a special diet to help them develop normally.

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