Maternal Pocket

In the process of studying phenylketonuria, the attention of researchers has attracted the fact of the high rate of development of mental retardation among children born from women suffering from this disease and not observing the corresponding diet in adulthood. This condition is called maternal phenylketonuria. The mechanism of development of this type of disease has not been studied at present, but it is assumed that it is similar to that of the remaining forms of phenylketonuria. The severity of the fetal lesion is directly proportional to the content of the amino acid phenylalanine in the mother's blood plasma. And its content in the fetus is higher than that of the mother, which is associated with its accumulation in the placenta. Nevertheless, the assumption of a direct toxic effect of the amino acid phenylalanine on the child's body has not yet been confirmed. The appearance of symptoms characteristic of this disease in the offspring does not depend on the presence or absence of signs of mental retardation in the mother.

Symptoms of maternal phenylketonuria include an increased incidence of spontaneous abortions in female patients, a decrease in the mass and growth of children at birth, mental retardation, small brain size, congenital heart disease, and a moderate increase in phenylalanine in children. Mental retardation occurs in 92% of children born, small brain sizes - in 73%, intrauterine growth retardation - in 40%, different developmental abnormalities - in 12% of children. The frequency of individual signs of the disease in a child decreases sharply with a decrease in the content of phenylalanine in the blood of a pregnant woman. In this regard, the purpose of dietary treatment of maternal phenylketonuria is to reduce the level of phenylalanine in the mother's blood, which prevents damage to the fetus. Since the embryo is particularly sensitive to this type of exposure, a woman must begin to follow the diet before pregnancy. It is important to avoid the lack of essential amino acids. In the process of treatment, it is necessary to control the level of phenylalanine and its derivatives in biological fluids, such as blood serum and urine. Adequate and timely treatment starts to prevent all or most manifestations of maternal phenylketonuria.