Citrullinemia type I is an inherited disorder caused by a deficiency of the enzyme argininosuccinate synthetase. This enzyme is responsible for converting the amino acid citrulline into arginine, which is necessary for the urea cycle. Without this enzyme, toxic levels of ammonia and other substances can build up in the body, leading to a variety of symptoms including vomiting, lethargy, poor feeding, and seizures.

The symptoms of Citrullinemia type I vary from person to person, but can include:

-Poor feeding
-Vomiting
-Lethargy
-Developmental delay
-Seizures
-Hypoglycemia
-Hyperammonemia
-Hyperammonemic encephalopathy
-Liver dysfunction
-Hyperammonemic coma
-Hyperammonemic acidosis
-Hyperammonemic hyperglycinemia
-Hyperammonemic hyperornithinemia
-Hyperammonemic hypercitrullinemia
-Hyperammonemic hyperargininemia
-Hyperammonemic hyperglutaminemia
-Hyperammonemic hyperlysinemia
-Hyperammonemic hyperprolinemia
-Hyperammonemic hyperalaninemia

Citrullinemia type I is caused by mutations in the ASS1 gene, which is responsible for the production of the enzyme argininosuccinate synthetase. This enzyme is necessary for the conversion of citrulline to arginine, an essential amino acid. Mutations in the ASS1 gene lead to a deficiency of argininosuccinate synthetase, resulting in a buildup of citrulline in the body and the symptoms of Citrullinemia type I.

The primary treatment for Citrullinemia type I is a low-protein diet and supplementation with essential amino acids. Other treatments may include medications to reduce ammonia levels, antibiotics to treat infections, and medications to reduce inflammation. In some cases, a liver transplant may be necessary.

1. Genetic predisposition: Citrullinemia type I is an inherited disorder caused by mutations in the ASS1 gene.

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

3. Age: Citrullinemia type I is most commonly diagnosed in infants and young children.

Yes, there is a cure for Citrullinemia type I. Treatment typically involves a low-protein diet and the use of medications such as sodium benzoate, arginine, and citrulline to reduce the levels of ammonia in the blood. Additionally, a liver transplant may be necessary in some cases.