Carbamoyl Phosphate Synthetase I Deficiency (CPS1) is an inherited disorder caused by a deficiency of the enzyme carbamoyl phosphate synthetase I. This enzyme is responsible for the production of urea, which is necessary for the breakdown of proteins and other nitrogen-containing compounds in the body. Without this enzyme, the body is unable to properly break down proteins and other nitrogen-containing compounds, leading to a buildup of toxic substances in the body. Symptoms of CPS1 include intellectual disability, seizures, poor growth, and liver and kidney problems. Treatment typically involves a combination of dietary changes, medications, and supplements.

The symptoms of Carbamoyl Phosphate Synthetase I Deficiency can vary from person to person, but may include:

-Developmental delay

-Seizures

-Hyperammonemia (elevated levels of ammonia in the blood)

-Hypoglycemia (low blood sugar)

-Vomiting

-Poor feeding

-Lethargy

-Irritability

-Liver dysfunction

-Growth retardation

-Neurological abnormalities

-Intellectual disability

-Movement disorders

-Behavioral problems

-Hypotonia (low muscle tone)

-Hypocalcemia (low calcium levels)

-Hyperuricemia (high levels of uric acid in the blood)

Carbamoyl Phosphate Synthetase I Deficiency is caused by mutations in the CPS1 gene. These mutations can be inherited from a parent or can occur spontaneously. In some cases, the cause of the mutation is unknown.

The primary treatment for Carbamoyl Phosphate Synthetase I Deficiency is a low-protein diet supplemented with citrulline, arginine, and ornithine. This helps to reduce the amount of ammonia in the body and can help to reduce the severity of symptoms. Other treatments may include medications to reduce ammonia levels, such as sodium benzoate, sodium phenylbutyrate, and sodium phenylacetate. In some cases, a liver transplant may be necessary.

1. Genetic inheritance: Carbamoyl Phosphate Synthetase I Deficiency is an inherited disorder caused by mutations in the CPS1 gene.

2. Age: The disorder is more common in infants and young children.

3. Gender: Males are more likely to be affected than females.

4. Ethnicity: The disorder is more common in certain ethnic groups, such as Ashkenazi Jews.

Yes, there is a medication available for Carbamoyl Phosphate Synthetase I Deficiency. The medication is called sodium benzoate, and it is used to reduce the levels of ammonia in the blood. It is usually taken orally, but can also be given intravenously. Additionally, dietary modifications may be recommended to reduce the amount of protein in the diet, as well as supplementing with citrulline and arginine.