Disease at a Glance

Summary
Carbamoyl phosphate synthetase I deficiency (CPS1 deficiency) is a genetic disorder that causes episodes of toxic levels of ammonia in the blood (hyperammonemia). Symptoms include poor feeding, vomiting, lack of energy, low body temperature and weak muscle tone. These usually occur in the first few days of life. High levels of ammonia can lead to complications such as seizures, breathing problems, intellectual disability and coma. CPS1 deficiency is caused by alterations in the CPS1 gene and is inherited in an autosomal recessive pattern. Diagnosis is based on symptoms, laboratory testing, and genetic testing.
Estimated Number of People with this Disease
In the U.S., this disease is estimated to be fewer than

5,000

What Information Does GARD Have For This Disease?

Many rare diseases have limited information. Currently GARD is able to provide the following information for this disease:

*Data may be currently unavailable to GARD at this time.
When do symptoms of this disease begin?
The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.
Prenatal Selected
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child Selected
2-11 years
Adolescent Selected
12-18 years
Adult Selected
19-65 years
Older Adult Selected
65+ years
The common ages for symptoms to begin in this disease are shown above by the colored icon(s).

Symptoms

These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom.
This disease might cause these symptoms:
Musculoskeletal System

3 Symptoms

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Musculoskeletal System

Musculoskeletal System

The musculoskeletal system is made up of the bones, muscles, and joints. Common symptoms of problems in the musculoskeletal system include pain, weakness, stiffness, noises in the joints, inflammation, and decreased range of motion. Diseases affecting the musculoskeletal system may be diagnosed and treated by an orthopedist, rheumatologist, or neuromuscular specialist.

Causes

Genetic Disease

Carbamoyl phosphate synthetase 1 deficiency is a genetic disease, which means that it is caused by one or more genes not working correctly.

Disease causing variants in the following gene(s) are known to cause this disease: CPS1

Questions:

Inheritance

All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):

Questions:

Last Updated: Nov. 8, 2021