Progeny, pregnancy and phenylketonuria

Two sisters were diagnosed as having phenylketonuria at the age of 13 years and eight years and having Wechsler IQs of 48-58 and 71-81 respectively. Neither girl was treated with diet. At the age of 21 years the older girl became pregnant. Her blood phenylalanine level was 23mg/100 ml. A low phenylalanine diet, instituted from the 10th week of gestation, maintained her blood phenylalanine levels below 6mg/100ml for the rest of the pregnancy. A female baby, of birth weight 3216g and normal skull size, was delivered at term. The baby died at 14 days of congenital heart disease. Pregnancy in a phenylketonuric woman carries high risks to the fetus. A generation of treated phenylketonuric girls is approaching reproductive life, and doctors and the girls themselves need to be alerted to these risks and the need for strict dietary control during pregnancy. There are probably unrecognised women in the community with phenylketonuria or with hyperphenylalaninaemia whose babies face similar risks. Identification of these women could be achieved by antenatal Guthrie testing.