About Citrullinemia type II

What is Citrullinemia type II?

Citrullinemia type II is a rare inherited disorder that affects the body's ability to process certain proteins. It is caused by a deficiency of the enzyme argininosuccinate synthetase, which is responsible for breaking down the amino acid citrulline. Symptoms of citrullinemia type II include vomiting, poor feeding, lethargy, seizures, and coma. If left untreated, the disorder can lead to permanent brain damage and death. Treatment typically involves a combination of dietary changes, medications, and supplements.



What are the symptoms of Citrullinemia type II?

The symptoms of Citrullinemia type II vary from person to person, but may include:

-Poor feeding
-Vomiting
-Lethargy
-Developmental delay
-Seizures
-Hypoglycemia
-Hyperammonemia
-Hyperammonemic encephalopathy
-Liver dysfunction
-Hypotonia
-Hypertonia
-Ataxia
-Growth retardation
-Hyperactivity
-Hyperreflexia
-Hyperventilation
-Hyponatremia
-Hyperuricemia
-Hypercholesterolemia
-Hypertriglyceridemia
-Hyperphosphatemia
-Hypercalcemia
-Hypokalemia
-Hyperbilirubinemia
-Ascites
-Hepatome



What are the causes of Citrullinemia type II?

Citrullinemia type II is caused by mutations in the SLC25A13 gene. This gene provides instructions for making a protein that is involved in transporting molecules into and out of mitochondria, which are the energy-producing structures in cells. Mutations in the SLC25A13 gene reduce or eliminate the activity of the protein, which disrupts the transport of molecules into and out of mitochondria. This disruption leads to the buildup of toxic substances in the body, which causes the signs and symptoms of Citrullinemia type II.



What are the treatments for Citrullinemia type II?

The primary treatment for Citrullinemia type II is a low-protein diet and supplementation with essential amino acids. Other treatments may include medications to reduce ammonia levels, such as L-ornithine-L-aspartate, and medications to reduce the amount of ammonia produced by the liver, such as sodium benzoate. In some cases, a liver transplant may be necessary.



What are the risk factors for Citrullinemia type II?

1. Genetic predisposition: Citrullinemia type II is an inherited disorder caused by mutations in the SLC25A13 gene.

2. Ethnicity: Citrullinemia type II is more common in people of Japanese, Korean, and Chinese descent.

3. Age: Citrullinemia type II is more common in infants and young children.

4. Gender: Citrullinemia type II is more common in males than females.

5. Exposure to toxins: Exposure to certain toxins, such as lead, can increase the risk of developing Citrullinemia type II.



Is there a cure/medications for Citrullinemia type II?

Yes, there is a cure for Citrullinemia type II. Treatment typically involves a low-protein diet, medications to reduce ammonia levels, and supplements to replace essential amino acids. In some cases, a liver transplant may be necessary.