Carbamoyl Phosphate Synthase I Deficiency Disease is a rare genetic disorder characterized by the impaired function of the enzyme carbamoyl phosphate synthase I (CPS1). This enzyme is essential in the urea cycle, a metabolic pathway responsible for removing toxic ammonia from the body.
In individuals affected by Carbamoyl Phosphate Synthase I Deficiency Disease, CPS1 enzyme activity is reduced or absent, leading to the accumulation of ammonia in the blood. This can cause a variety of symptoms and complications, including lethargy, poor feeding, vomiting, seizures, intellectual disability, developmental delay, and coma if left untreated.
The severity and onset of the symptoms can vary widely among affected individuals, ranging from mild cases that are diagnosed during childhood to severe cases that present shortly after birth. Newborns with the severe form of the disease may experience respiratory distress and require immediate medical intervention.
Carbamoyl Phosphate Synthase I Deficiency Disease is an autosomal recessive disorder, meaning that the affected individual must inherit two mutated copies of the CPS1 gene, one from each parent, to develop the condition. Genetic testing can confirm the diagnosis, and early detection is crucial for prompt treatment and management.
Treatment typically involves a combination of dietary modifications and medications to control ammonia levels in the blood. This may include a low-protein diet, medications to enhance ammonia elimination, and in severe cases, liver transplantation. Regular monitoring and close medical supervision are necessary to manage symptoms and prevent complications associated with Carbamoyl Phosphate Synthase I Deficiency Disease.
