Tsitrullinemiya ( tsitrullinemiya )

August 12, 2017 17:51 | Genetic Diseases

The disease was first described in 1962, the disease is transmitted in an autosomal recessive inheritance type.The primary biochemical defect is a deficiency of the enzyme activity, providing conversion of citrulline and aspartic acid argininyantarnuyu acid.This enzyme is located in the liver, kidney and to a lesser extent in brain tissue and skin cells.

number of symptoms in this disease is caused by ammonia intoxication.Scientists theorize that the increased concentration of citrulline, which is produced in excessive amounts in the body with a deficiency of an enzyme also has a toxic effect on the central nervous system.

flow tsitrullinemii (occurrence of citrulline in the blood) can vary from asymptomatic to very heavy fatalities in the first month of life.There are three forms of the disease.

In acute neonatal form of symptoms develops during the first days of a child's life after a short asymptomatic period, when the child looks perfectly healthy.The first signs of the disease are sucking disorde

rs and severe drowsiness.Then joins respiratory disorder, increased muscle tone (the child is in a position with legs bent at the joints hands and feet, hands clenched into fists), there are convulsions, symptoms of depression of the central nervous system are observed up to coma.Manifestations of the disease are so heavy that lead to death in the neonatal period.

Another form tsitrullinemii first appears, as a rule, in the first year of life in the form of recurrent bouts of vomiting, seizures.The child is progressively lagging behind in psychomotor and physical development of their peers.In rare cases, you can note the appearance of increased bleeding syndrome (hemorrhagic syndrome), which is manifested recurring bleeding from the gastrointestinal tract, nasal, uterine bleeding, bruising at the barely visible injury, and so on. D. An examination in a hospital sometimes reveal an enlarged liver.Periods of deterioration is usually triggered by the reception write, protein-rich, or the addition of any other disease.

third form of the disease, as described in the literature only in individual patients, a mild benign course.There are no symptoms, as a rule, no, there are only characteristic changes in blood and urine tests.

metabolic disorders at tsitrullinemii characterized by increasing the number of citrulline in blood and urine that is only determined during the survey targeted at specialized hospitals.

positive effect of dietary treatment gives a limitation receiving protein under the control of citrulline in the blood and urine.