Carbamyl phosphate synthetase I deficiency disease, also known as CPS1 deficiency, is a rare autosomal recessive genetic disorder that affects the urea cycle, a metabolic pathway responsible for the removal of ammonia from the body. In this disorder, the enzyme carbamyl phosphate synthetase I, which is essential for the initiation of the urea cycle, is deficient or dysfunctional.
Individuals with CPS1 deficiency experience an inability to convert ammonia, a toxic waste product of protein metabolism, into urea, a less toxic compound that can be excreted through urine. The accumulation of excessive ammonia in the blood can lead to hyperammonemia, a condition that can have severe neurological consequences.
The disorder typically becomes apparent in the first few days after birth or during infancy when affected individuals display symptoms such as poor feeding, vomiting, lethargy, and an abnormal increase in plasma ammonia levels. If left untreated, CPS1 deficiency can result in serious neurological damage, developmental delays, seizures, coma, and even death.
Diagnosis of CPS1 deficiency is confirmed through genetic testing to identify mutations in the CPS1 gene. Management of the disorder involves dietary interventions that limit protein intake to reduce ammonia production, along with the administration of medications that promote waste nitrogen excretion and support the urea cycle. In severe cases, liver transplantation may be considered as a treatment option.
Early detection and prompt intervention are crucial to improve the long-term outcome and quality of life for individuals with CPS1 deficiency. Genetic counseling is recommended for affected families to understand the inheritance pattern and the potential risks of passing the condition to the next generation.
