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Phenylketonuria

Phenylketonuria

Phenylketonuria is a rare genetic condition that affects infants from the time of birth. The body lacks the substance that breaks down phenylalanine and this builds up along the brain and in the blood. This increased level of phenylalanine damages the brain. Symptoms include learning difficulties, difficulties in behaviour and the presence of seizures. Newborns are routinely checked immediately after birth to screen from diseases and one of these is the presence of phenylketonuria.

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