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Citrullinemia Causes

Citrullinemia is inherited in a pattern called autosomal recessive. This means that both copy gene copies in every cell contain mutations.

Citrullinemia Definition

Citrullinemia is defined as a hereditary condition in which the mutations of genes cause ammonia and some other harmful substances to build up in the blood. There are two kinds of Citrullinemia, Type I and Type II. The disorder is categorized under disorders of the urea cycle, which is a series of chemical reactions taking place inside the liver.

Citrullinemia Diagnosis

The disorder is diagnosed through biochemical and clinical results and may be confirmed through molecular genetic testing.

Citrullinemia Symptoms and Signs

The two forms of Citrullinemia have different symptoms and signs. Type I or Classic Citrullinemia typically turns evident a few days after birth. Infants with the disorder may appear normal, but when ammonia builds up they experience increasing lack of energy, vomiting, poor feeding, loss of consciousness, and seizures. Type II mainly affects one's nervous system, which causes restlessness, confusion, memory loss, seizures, abnormal behaviors, and coma.

Citrullinemia Treatment

A successful treatment is liver transplant to avert hyperammonemic crises. Other treatments would be to eliminate the preference of protein-rich foods, and correcting metabolic disturbances. In most infants, supplementing with vitamins that are fat-soluble, and using lactose-free formulas resolves symptoms. Diets that are lipid-rich, protein-rich, and low-carbohydrates can prevent the disorder.

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