What is another word for Carbamoyl Phosphate Synthase I Deficiency Disease?
Pronunciation: [kˈɑːbɐmˌɔ͡ɪl fˈɒsfe͡ɪt sˈɪnθe͡ɪs a͡ɪ dɪfˈɪʃənsi dɪzˈiːz] (IPA) 
Carbamoyl Phosphate Synthase I Deficiency Disease, also known as CPSI Deficiency, is a rare genetic disorder that affects the urea cycle, a metabolic pathway responsible for ammonia detoxification. This condition is characterized by the absence or malfunctioning of an enzyme called carbamoyl phosphate synthase I, which leads to a buildup of toxic levels of ammonia in the body. Synonyms for this disorder include CPSI deficiency, CPSI deficiency disease, CPSI deficiency syndrome, and carbamoyl phosphate synthetase I deficiency. Early diagnosis and management are important for individuals with CPSI Deficiency to prevent severe complications. Treatment focuses on reducing ammonia levels, which sometimes requires dietary modifications, medication, and, in severe cases, liver transplantation.
