Carbamoylphosphate Synthetase I Deficiency Disease (CPS1 deficiency) is a rare genetic disorder that affects the urea cycle, a process in the body that eliminates toxic ammonia. This disease is caused by mutations in the CPS1 gene, which provides instructions for producing the enzyme carbamoylphosphate synthetase I. This enzyme plays a crucial role in the urea cycle, specifically in the conversion of ammonia to urea.
Individuals with CPS1 deficiency have impairments in the ability to produce functional carbamoylphosphate synthetase I. As a result, ammonia cannot be efficiently processed and eliminated from the body, leading to its accumulation in the bloodstream. This elevated ammonia level can lead to a variety of symptoms, including lethargy, poor feeding, vomiting, seizures, and developmental delays.
CPS1 deficiency is typically diagnosed through blood tests that measure ammonia levels. Genetic testing may also be conducted to identify the specific mutation in the CPS1 gene. Treatment for CPS1 deficiency involves a combination of dietary modifications, medications, and supplements to help manage ammonia levels and prevent complications. In severe cases, liver transplantation may be necessary.
Due to the rarity and complexity of CPS1 deficiency, a multidisciplinary team of healthcare professionals, including geneticists, gastroenterologists, and dietitians, is often involved in the diagnosis and ongoing management of the condition. Early diagnosis and prompt treatment are critical for improving outcomes and preventing potential long-term complications.
