How do you manage citrullinemia?

Medical Care. As in all hyperammonemic states, immediately restrict dietary protein in patients with citrullinemia. Emphasize other nonprotein caloric sources to compensate. Intravenous sodium benzoate, sodium phenylacetate, and arginine are important therapeutic avenues for reduction of blood ammonia levels.

Is there a cure for citrullinemia?

Liver transplantation for urea cycle disorders is the only known curative therapy [Morioka et al 2005]. Transplantation eliminates the need for dietary protein restriction but does not reverse any neurologic sequelae that affected individuals may have at the time of transplant.

What causes citrullinemia?

Mutations in the ASS1 and SLC25A13 genes cause citrullinemia. The proteins produced from these genes play roles in the urea cycle. The urea cycle is a sequence of chemical reactions that takes place in liver cells. These reactions process excess nitrogen that is generated when protein is used by the body.

What are the symptoms of citrullinemia?

Symptoms may include abnormally diminished muscle tone (hypotonia), poor feeding, vomiting, lethargy, and seizures. If left untreated, organic acidemias may progress to coma and life-threatening complications. These disorders are of a genetic origin and affect the urea cycle as a secondary phenomenon.

How do you prevent citrullinemia?

For long-term treatment, people with citrullinemia type 1 are put on a special low- protein diet and are given medications and supplements that help keep their ammonia levels low. Infants are given a special low-protein formula instead of breast milk or regular formula.

How do you test for citrullinemia?

In patients with citrullinemia who are symptomatic, the measurement of blood ammonia levels is the primary laboratory test in diagnosis. No other routinely obtained study provides diagnostically useful information. Quantitative measurement of blood amino acid levels is the next immediate step.

How do you prevent Citrullinemia?

Why is arginine given in Citrullinemia?

In carbamoyl phosphate synthetase deficiency, low plasma arginine levels may also occur, and similar cutaneous findings have been reported in this second metabolic defect of the urea cycle. Diets high in arginine will heal the skin lesions.

What causes low citrulline levels?

Low levels of CIT can indicate that your child has a metabolic disorder. If your baby has a metabolic disorder, more testing is needed to find out which metabolic disorder it is. The most common metabolic disorders with low levels of CIT are called proximal urea cycle disorders.

What causes low citrulline?

Clinical Summary Proximal urea cycle disorders are caused by defects in the enzymes early in the cycle that are responsible for converting ammonia to urea. This results in hyperammonemia and reduced citrulline.

What are normal citrulline levels?

The median plasma level of citrulline was very low at 9.2 uM (interquartile range (IQR) 5.2 to 14.4) compared to a normal range of 40 ± 10 uM in healthy adults [16].

What is HHH syndrome?

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder of the urea cycle. HHH has a panethnic distribution, with a major prevalence in Canada, Italy and Japan. Acute clinical signs include intermittent episodes of vomiting, confusion or coma and hepatitis-like attacks.