And phenylketonuria

August 12, 2017 17:51 | Genetic Diseases

Classical phenylketonuria was described in 1934. The disease is transmitted in an autosomal recessive manner.The basis deficiency phenylketonuria is an enzyme that converts the amino acid phenylalanine at amino acid tyrosine.Consequently, the tissues and fluids in the body of the patient accumulates a large number of different acids and phenylalanine, which are derivatives thereof.The leading role in the development of phenylketonuria phenylalanine has a toxic effect on the central nervous system.Furthermore, in phenylketonuria disturbed metabolism of proteins, lipids and hormones.Also, a certain value in the formation of central nervous system disorders have abnormal liver function, as in this case, it can not cope with so many toxic products that appear in the body that are normally neutralized by the body.

Classical phenylketonuria is the most common disease of the groups of protein metabolism disorders.Due to severe, and the possibility of preventive treatment of this disease is recommended for scre

ening determination among all newborns.For this purpose, in infants aged 5-7 days, blood is taken and made a special laboratory testing.Screening is the name of this study, is the earliest way to diagnose the disease in childhood.Identification of the disease up to 8 months of age provides a full development of the child.In our country mass survey is not implemented in all regions, which explains why so many forms of late diagnosed phenylketonuria.Usually the first signs of development in early childhood can already be seen in 2-6 months.As a rule, the very first symptoms of the disease are: baby lethargy, irritability, anxiety, vomiting, decreased muscle tone.Urine these children becomes "mouse" smell.In the future, as the child grows, if he did not get treatment develop mental retardation, in some cases, it reaches deep degree.The appearance of children with phenylketonuria also has its own characteristics: skin color, hair and the iris is much paler in comparison with healthy children, due to low content of melanin pigment.

Diagnosis of phenylketonuria is based on the totality of symptoms of the disease, information about the pedigree of a sick child (can be closely related to marriage, a similar disease in close relatives), as well as the results of laboratory tests.Typical laboratory signs are phenylketonuria increase in the blood content of the amino acid phenylalanine, the appearance of its derivatives in the urine primarily phenylpyruvic acid, which may be detected by special tests.

being developed molecular genetic methods of diagnosis of phenylketonuria.The object of study for such diagnostic methods are lymphocytes, chorionic cells and amniotic fluid.Determination of the genetic defect by using DNA probes is the most reliable method of diagnosis, the accuracy of which is 100%.

main way to treat phenylketonuria is compliance with a strict diet that excludes the protein intake in the body, and the amino acid phenylalanine.The diet of patients includes vegetables, fruits, juices, as well as special products containing the minimum amount of protein (bread, pasta, cereals, cooked starch-based).To make up for deficiency of protein, children are given the protein preparations devoid of phenylalanine.vitamins (especially B group) are also required to patients with phenylketonuria.Along with dieting and taking vitamins is necessary to conduct medical therapy.Drug treatment includes various drugs from the group of nootropics (Nootropilum, fezam, piracetam and the like. D.), Anticonvulsants and drugs group from ATP.For non-drug treatments for phenylketonuria include physiotherapy techniques such as massage and physiotherapy repeated courses.

Currently, the question of the duration of treatment and the possible timing of its termination remains unresolved.It is known that the expansion of the diet in the early school years retards mental abilities of children negatively affects their behavior, attention, memory, t. E. An adverse effect on brain function.