Citrullinemia

Citrullinaemia is a congenital deficiency of one of the enzymes necessary for the chemical breakdown of proteins in the urine. As a result of this disorder, ammonia and the amino acid citrulline begin to accumulate in the blood. This can lead to serious health problems, including mental retardation and other impairments.

Citrullinemia is a rare hereditary disease that is inherited in a recessive manner. This means that each parent must pass the defective gene to the child for it to develop citrullinemia. In most cases, children inherit genes from two healthy parents who may have carried the defective gene.

Symptoms of citrullinemia may begin to appear in the first days of a child's life. Usually the first signs are weakness, inability to feed, vomiting and urinary retention. If left untreated, the disease can lead to psychomotor retardation, seizures and even coma.

Treatment for citrullinemia involves limiting protein in the diet. This helps reduce ammonia levels in the blood and prevent the development of serious complications. In addition, children with citrullinemia may be given medications that help lower blood ammonia levels.

Overall, citrullinemia is a serious condition that requires early diagnosis and treatment. If you suspect your child may be suffering from this condition, contact your doctor for further advice and treatment.

Citrullinaemia is a rare congenital disease that is associated with insufficient activity of an enzyme necessary for the chemical breakdown of proteins in the urine. As a result of this process, ammonia and the amino acid citrulline accumulate in the blood.

The disease is hereditary and is inherited from both parents. Moreover, if both parents are carriers of the gene, then the probability of having a child with citrullinemia is 25%.

The main symptom of citrullinemia is mental retardation in children. Newborns may have an unusual odor and unnaturally pale skin. With further development of the disease, increased irritability, delayed speech and physical development, convulsions and muscle weakness may appear.

Treatment for citrullinemia includes limiting the intake of protein foods, as well as taking special medications that help reduce ammonia levels in the blood. In some cases, a liver transplant may be required.

In general, the prognosis of the disease depends on how early the diagnosis was made and treatment started. If the disease is identified and treatment started early enough, children with citrullinemia can achieve a normal level of development and lead a full life.

Thus, citrullinemia is a serious disease that needs to be identified and treated as early as possible. Parents who suspect their child has this pathology should consult a doctor for advice and diagnosis.

Citrullination is a deficiency of enzymes that control the metabolism of amino acids such as citrulline and arginine. This disease causes a buildup of these substances in the body, which can lead to various health problems. This article will provide information about this disease.

Citrullinaemia is a rare hereditary metabolic disorder characterized by excessive accumulation of citrulline and proline in serum and tissues due to decreased activity of the enzyme ornithine transcarbamylase (OTC). The gene encoding this enzyme (OTC) is mapped to chromosome 3q27