Carbamyl phosphate synthetase deficiency disease is a rare metabolic disorder caused by a deficiency in the enzyme carbamyl phosphate synthetase. This enzyme is essential for the proper functioning of the urea cycle, a process responsible for the elimination of toxic ammonia from the body.
In individuals with carbamyl phosphate synthetase deficiency disease, the enzyme's deficiency impairs their ability to convert ammonia into urea, resulting in the accumulation of ammonia in the bloodstream. Elevated ammonia levels can lead to severe neurological symptoms, including poor feeding, vomiting, seizures, lethargy, and intellectual disability.
The disease is typically evident shortly after birth, with affected infants displaying symptoms within a few days. If left untreated, carbamyl phosphate synthetase deficiency disease can cause life-threatening complications, such as respiratory distress, brain damage, and death.
Diagnosis of carbamyl phosphate synthetase deficiency disease involves measuring ammonia levels in the blood, urine, or cerebrospinal fluid, as well as genetic testing to identify mutations in the CPS1 gene responsible for encoding carbamyl phosphate synthetase. Early detection is crucial for the prompt initiation of treatment.
Management of the condition mainly involves a protein-restricted diet supplemented with appropriate amounts of calories and essential nutrients. Medications such as phenylbutyrate and sodium benzoate may be prescribed to enhance ammonia excretion. In severe cases, liver transplantation may be necessary to provide a functional source of the deficient enzyme.
With early diagnosis and appropriate treatment, individuals with carbamyl phosphate synthetase deficiency disease can experience improved health outcomes and increased life expectancy. Close monitoring and ongoing medical management are essential components of the long-term care of individuals affected by this disorder.
