Maternal PKU

August 12, 2017 17:51 | Genetic Diseases

In studying phenylketonuria attention of scientists, researchers drew fact high frequency of mental retardation in children born to women who suffer from this disease and do not observe the proper diet in adulthood.This state has been called maternal phenylketonuria

.The mechanism of development of this type of disease is now studied enough, but it is assumed that it is similar to that at other forms of phenylketonuria.The severity of the fetus is directly proportional to the content of the amino acid phenylalanine in the plasma of the mother's blood.Moreover, its content in the body of the fetus is higher than that of the mother, due to its accumulation in the placenta.Nevertheless, the assumption of a direct toxic effect of the amino acid phenylalanine in the body of the child accurate confirmation has not yet received.The appearance of symptoms characteristic of the disease in the offspring is independent of the presence or absence of signs of mental retardation in the mother.

maternal phenylketonuria Signs include an increased incidence of spontaneous abortions in female patients, weight reduction and growth of children at birth, mental retardation, smaller brain size, congenital heart disease, a moderate increase in the content of phenylalanine in the blood of children.Mental retardation occurs in 92% of births, small brain sizes - from 73%, intrauterine growth retardation - 40%, various anomalies of development - 12% of children.The frequency of individual signs of the disease in a child decreases dramatically with a decrease in the content of phenylalanine in the blood of pregnant women.In this regard, the purpose of maternal phenylketonuria dietary treatment is to reduce the level of phenylalanine in the mother's blood, which prevents damage to the fetus.Since the embryo is especially sensitive to this kind of impact, the woman should start dieting before pregnancy.It is important to avoid a lack of essential amino acids.In the treatment process is necessary to monitor the level of phenylalanine and its derivatives in biological fluids such as serum and urine.Adequate and timely initiation of treatment helps to prevent all or most of the manifestations of maternal phenylketonuria.