Citrulinaemia( citrullinuria)

The disease was first described in 1962. This disease is transmitted by an autosomal recessive type of inheritance. The primary biochemical defect is the inadequate activity of the enzyme, which ensures the conversion of citrulline and aspartic acid to arginine succinic acid. This enzyme is found in the liver, in the kidneys and to a lesser extent in the brain tissue and skin cells.

A number of symptoms in this disease are caused by ammonia intoxication. Scientists suggest that the increased concentration of citrulline, which is formed in excess in the body with a deficiency of the enzyme, also has a toxic effect on the central nervous system.

The course of citrullineemia( the appearance of citrulline in the blood) can range from asymptomatic to extremely severe with a fatal outcome in the first month of life of the child. There are three forms of the disease.

In acute neonatal form, symptomatology develops during the first days of a child's life after a short asymptomatic period when the child looks absolutely healthy. The first signs of the disease are suckling disorders and pronounced drowsiness. Then a breathing disorder is added, muscle tone is increased( the child is in the position with arms and legs bent in the joints, the hands are clenched into fists), convulsions appear, symptoms of central nervous system depression down to coma. Manifestations of the disease are so severe that they lead to a fatal outcome in the newborn period.

Another form of citrullineemia first appears, usually in the first year of life in the form of recurring attacks of vomiting, seizures. The child progressively lags behind in psychomotor and physical development from his peers. In rare cases, it can be noted the appearance of the syndrome of increased bleeding( hemorrhagic syndrome), which manifests itself periodically bleeding from the gastrointestinal tract, nasal, uterine bleeding, the appearance of bruising with a barely noticeable trauma, etc. When examining in the hospital sometimes show an increase in liver size. The periods of deterioration are usually provoked by the ingestion of a food rich in protein, or by the addition of some other disease.

The third form of the disease, described in the literature only in single patients, is characterized by a mild benign course. Any symptoms, as a rule, are absent, there are only characteristic changes in blood and urine tests.

Exchange disorders in citrullineemia are characterized by an increase in the amount of citrulline in the blood and urine, which is determined only when conducting a targeted examination in specialized hospitals.

A positive effect is given by dietary treatment with restriction of protein intake under the control of citrulline content in blood and urine.