Carbamoyl-phosphate synthetase 1 deficiency (CPS1 deficiency) is an inherited disorder that affects the urea cycle, a series of chemical reactions in the body that helps to break down proteins. People with CPS1 deficiency are unable to produce enough of the enzyme carbamoyl-phosphate synthetase 1, which is necessary for the urea cycle to function properly. This can lead to a buildup of toxic substances in the body, including ammonia, which can cause a variety of symptoms, including vomiting, confusion, and coma. Treatment typically involves a combination of dietary changes, medications, and supplements to help reduce the levels of ammonia in the body.

The symptoms of Carbamoyl-phosphate synthetase 1 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
-Lethargy
-Poor feeding
-Failure to thrive
-Liver dysfunction
-Neurological abnormalities
-Growth retardation
-Intellectual disability
-Behavioral problems
-Hypotonia (low muscle tone)
-Hypocalcemia (low calcium levels)
-Hyperuricemia (elevated levels of uric acid in the blood)
-Hyperammonemic encephalopathy (brain damage caused by high levels of ammonia in

Carbamoyl-phosphate synthetase 1 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 1 deficiency is a low-protein diet supplemented with citrulline, arginine, and ornithine. This helps to reduce the amount of ammonia in the body and prevent further damage to the brain and other organs. 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 1 deficiency is an inherited disorder caused by mutations in the CPS1 gene.

2. Ethnicity: The disorder is more common in certain ethnic groups, including Ashkenazi Jews, Sephardic Jews, and Italians.

3. Age: The disorder is more common in children and young adults.

4. Gender: The disorder is more common in males than females.

Yes, there is a cure for Carbamoyl-phosphate synthetase 1 deficiency. Treatment typically involves a combination of medications, dietary changes, and supplements. Medications used to treat this condition include sodium benzoate, citrulline, arginine, and ornithine. Dietary changes may include avoiding foods high in protein and limiting the intake of certain amino acids. Supplements such as vitamins B6, B12, and folate may also be recommended.