Treatment of phenylketonuria during pregnancy

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Abstract
A woman with apparently classic phenylketonuria (PKU) was treated from 6th wk of her pregnancy with a diet restricted in phenylalanine and supplemented with tyrosine. Serum phenylalanine levels were monitored weekly and documented good patient compliance. A female infant was born who was examined at age 8.5 mo. Physical examination was notable for a heart murmur suggestive of patent ductus arteriosus. Developmental quotient was normal. It is important to continue to monitor the outcome of pregnancies in women with PKU whose diet is restricted in phenylalanine in an effort to better define risks and to optimize treatment.