Question: What is (are) Carbamoyl phosphate synthetase 1 deficiency ?
Answer: Carbamoyl phosphate synthetase I deficiency is type of urea cycle disorder. It causes toxic levels of ammonia to accumulate in the blood. Signs and symptoms in newborns may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. Complications may include coma, developmental delay, and learning disability. Some individuals have a less severe form of the deficiency, and have milder symptoms that may not appear until later in life. Carbamoyl phosphate synthetase I deficiency is caused by mutations in the CPS1 gene and is inherited in an autosomal recessive fashion.
Source: GARD

Question: What are the symptoms of Carbamoyl phosphate synthetase 1 deficiency ?
Answer: What are the signs and symptoms of Carbamoyl phosphate synthetase 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Carbamoyl phosphate synthetase 1 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Hyperammonemia 90% Muscular hypotonia 90% Respiratory insufficiency 90% Seizures 90% Stroke 5% Ataxia - Autosomal recessive inheritance - Cerebral edema - Coma - Episodic ammonia intoxication - Failure to thrive - Hypoargininemia - Intellectual disability - Irritability - Lethargy - Low plasma citrulline - Protein avoidance - Respiratory alkalosis - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD