CPT1B
Carbamoyl Phosphate Synthetase I Deficiency (CPS I Deficiency)
Description
Carbamoyl phosphate synthetase I (CPS I) deficiency is a rare inherited metabolic disorder that affects the urea cycle. The urea cycle is a biochemical pathway that removes nitrogen waste products from the body. In CPS I deficiency, a deficiency in the CPS I enzyme disrupts this process, leading to a buildup of ammonia and other toxic substances in the body.
Associated Diseases
CPS I deficiency can manifest in a range of clinical conditions, including:
- Newborn-onset hyperammonemia: A severe form of the disease that can lead to brain damage, seizures, and death within the first few days of life.
- Late-onset CPS I deficiency: A milder form that typically presents later in childhood or adolescence with less severe symptoms.
- Progressive encephalopathy: A gradual decline in brain function that can occur in late-onset cases.
Did you Know ?
Approximately 1 in 40,000 people worldwide are affected by CPS I deficiency. The incidence is higher in certain populations, such as the Inuit and French Canadian populations.
