CPS1deficiëntie

CPS1deficiëntie, also known as carbamyl phosphate synthetase I deficiency, is a rare inherited metabolic disorder. It is an autosomal recessive condition, meaning an individual must inherit two copies of the mutated gene, one from each parent, to be affected. This deficiency affects the urea cycle, a critical pathway in the liver responsible for removing excess nitrogen from the body. Nitrogen is a byproduct of protein breakdown and, if not processed, can build up in the bloodstream as toxic ammonia.

Carbamyl phosphate synthetase I is the first enzyme in the urea cycle. When this enzyme is deficient or non-functional, the conversion of ammonia into a less toxic form is impaired. This leads to a buildup of ammonia (hyperammonemia) in the blood, which can be dangerous, particularly for the brain. Symptoms can vary in severity and may include lethargy, poor feeding, vomiting, irritability, seizures, developmental delays, and intellectual disability. In severe cases, it can lead to coma and even death if not diagnosed and treated promptly.

Diagnosis is typically made through blood tests that measure ammonia levels and amino acid profiles, as well as genetic testing to identify mutations in the CPS1 gene. Treatment focuses on reducing ammonia levels and managing the condition. This often involves a low-protein diet, medications to help excrete nitrogen, and in some cases, liver transplantation. Early diagnosis and consistent management are crucial for improving outcomes and preventing serious neurological damage.