Treatment is with a special diet low in phenylalanine. The goal is to normalize the levels of phenylalanine and tyrosine in the blood to prevent brain damage. Failure of treatment results in profound irreversible mental retardation, microcephaly (an abnormally small head), epilepsy, and behavior problems. It is clear that if the diet is not followed closely, especially during childhood, some impairment is inevitable. Maternal phenylketonuria requires a diet low in phenylalanine.
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