Insufficiency of ornithine transcarbamylase

The disease was first described in 1962. According to the 1983 data, only about 510 cases of this metabolic disease are described in the literature. The deficiency of ornithine transcarbamylase can be inherited by an autosomal recessive, autosomal dominant and a dominant type linked to the X chromosome. In the latter case, there is an early fatal outcome in males.

The primary biochemical defect in this protein exchange disease is a deficiency in the activity of the enzyme ornithine transcarbamylase, which ensures the formation of the citrulline protein. This enzyme is found mainly in the liver. A smaller number is located in the small intestine, and the minimum is in the brain and other tissues.

Symptoms of a disease that can be detected in a sick person include: severe central nervous system depression( up to coma), vomiting, convulsive syndrome, mental retardation. In the early form of the disease, which occurs only in newborn boys, the first manifestations of deficiency of ornithine transcardamylase are: vomiting, the appearance of convulsions, coma. All these symptoms appear in the child already on the second and third day of life, with the disease is extremely difficult and ends with death. An early sign is also a breathing disorder. In cases of a later onset of the disease, which in most cases coincides with the transfer of the child to mixed or artificial feeding, the addition of other diseases or surgical intervention, it manifests itself with vomiting, a pronounced depression of the central nervous system up to coma, the appearance of seizures, a lag in the physical andpsychomotor development, increase in liver size. In some children with this disease, the only symptom may be an aversion to meat and other foods rich in protein. Mental development of the child remains normal.

Treatment of is to observe a low-protein diet. In an acute period, peritoneal dialysis and hemodialysis are used.