Phenylketonuria (PKU) is one of the most common amino acids metabolisms disorders. Even though such disorders are rather scarce, it was the first case of all metabolism disorders. Phenylketonuria was first described by A. Fioling in 1934. PKU is an autosomic recessive hereditary metabolism disease that is followed by disorders in amino acids metabolism, which disorders the development of the nervous system. The earlier the treatment begins, the better prognosis of the disease is. If the baby is not being treated, his health gets worse already during the first 6 months of his life. During the first months he often does not eat well, sucks wanly, vomits. After some time after birth there appear the jumps. The baby is lacking vitality, sleepy or too much irritable. In many cases the muscular tonicity might be varied (either higher or lower). A specific smell or color of the body or urine of babies who have phenylketonuria may be common. Over time, growth, physical and mental development of the baby is out of order. Children, who have phenylketonuria, have emotional and action problems Moreover, just after birth phenylketonuria causes serious and incurable mental disorders The intelligence quotient of the majority of patients is lower than 60 points. There is a general babies’ check in order to diagnose phenylketonuria on time. The researches are being held in the Medical Genetics Centre of Vilnius Santariskes Clinic since 1975. The average of babies who have phenylketonuria is... [to full text]