Hereditary diseases of amino acid metabolism
Hereditary diseases of amino acid metabolism have a special place in a huge variety of genetically determined diseases of childhood.Manifestations of the disease do not occur immediately, but after a certain time after birth.Most of the amino acid metabolism disorders lead to severe irreversible damage psychomotor and physical development of children.The leading role in the diagnosis of hereditary defects belongs to the biochemical methods of amino acid metabolism.However, biochemical diagnostic methods that require implementation of large-volume studies using sophisticated equipment and rare reagents, available mainly only specialized centers for hereditary diseases and can not be widely used in ordinary hospitals.It is believed that those symptoms that occur in hereditary disorders of amino acid metabolism, so similar that distinguish them without special methods of investigation is not possible.Nevertheless, to some extent this is feasible.Based on a detailed study of the manifestations at various h
Special laboratory subject to the children with the following disabilities:
1) a combination of mental retardation visually impaired;
2) a combination of mental retardation with seizures;
3) change in urine color or odor;
4) a combination of liver and central nervous system;
5) a combination of mental retardation with skin lesions.
This attaches great importance to the presence in the family of consanguineous marriages, the same disease patients, deaths in childhood, for unexplained reasons.The first signs of the disease can be seen in the first six months of life.The course of pregnancy and childbirth is also essential for the correct diagnosis of the disease, since the exchange of proteins can be disrupted not only as a result of a genetic defect, but also influenced by other factors, such as birth trauma.
there are a number of diseases that occur quite difficult to include hereditary amino acid metabolic disorders.When such symptoms can be determined in the first days or weeks of life.The common feature of these disorders is the predominance in the picture of the disease symptoms of central nervous system.A child who seems healthy at birth, at 3 to 5 day of life refuses to take food becomes sluggish, sleepy, or, conversely, very excitable and restless, observed inhibition of reflexes, muscle tone change (reduction or, on the contrary, increase), seizures.In extremely severe cases can occur lethargy and coma.It is also possible the emergence of vomiting, loss of appetite, enlarged liver, respiratory failure, the development of hemorrhagic syndrome.In case of suspicion of a violation of protein metabolism is necessary to conduct laboratory examination focused.For example, infants who develop seizures in combination with impaired breathing and sharp depression of the central nervous system (denial of food intake, lethargy, poor movement, progressive drowsiness, suppression of unconditioned reflexes, decreased muscle tone and reflexes, lethargy, coma), should beWe screened for nonketotic giperglitsinemiyu and hereditary defects of the urea synthesis.