Fantasy becomes reality the effects of the birth of a second phenylketonuric infant to a greek family

Phenylketonuria is an inborn error of phenylalanine metabolism in which the metabolic defect produces a variable degree of brain damage and retardation (Yu, 1970). It differs from many other causes of retardation in that the effects of the disease can be prevented by appropriate dietary restrictions early in life. Phenylketonuria is inherited as an autosomal recessive. When it has occurred in a family, the risk of further children being affected is 1 in 4 for every subsequent pregnancy.