About Citrullinemia Type 1
What is Citrullinemia Type 1?
Citrullinemia Type 1 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 body to produce urea. Without this enzyme, citrulline builds up in the body, leading to a variety of symptoms, including vomiting, lethargy, poor feeding, and seizures. If left untreated, Citrullinemia Type 1 can be fatal. Treatment typically involves a low-protein diet and supplementation with arginine.
What are the symptoms of Citrullinemia Type 1?
The symptoms of Citrullinemia Type 1 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 hyperammonemia
-Hyperammonemic hyperammonemia with encephalopathy
-Hyperammonemic hyperammonemia with coma
-Hyperammonemic hyperammonemia with acidosis
-Hyperammonemic hyperammonemia with Coma and acidosis
-Hyperammonemic hyperammonemia with coma, acidosis, and encephalopathy
-Hyper
What are the causes of Citrullinemia Type 1?
Citrullinemia Type 1 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. Without this enzyme, citrulline builds up in the body, leading to the symptoms of Citrullinemia Type 1.
What are the treatments for Citrullinemia Type 1?
The primary treatment for Citrullinemia Type 1 is a low-protein diet and supplementation with essential amino acids. This helps to reduce the amount of ammonia in the body and prevent further damage to the liver. 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 body, such as sodium benzoate. In some cases, a liver transplant may be necessary.
What are the risk factors for Citrullinemia Type 1?
1. Genetic predisposition: Citrullinemia Type 1 is an inherited disorder caused by mutations in the ASS1 gene.
2. Ethnicity: Citrullinemia Type 1 is more common in people of Japanese, Korean, and Chinese descent.
3. Age: Citrullinemia Type 1 is most commonly diagnosed in infants and young children.
4. Gender: Citrullinemia Type 1 is more common in males than females.
Is there a cure/medications for Citrullinemia Type 1?
Yes, there is a cure for Citrullinemia Type 1. 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.