What is another word for Carbamyl Phosphate Synthetase I Deficiency Disease?
Pronunciation: [kˈɑːbɐmˌɪl fˈɒsfe͡ɪt sˈɪnθɪtˌe͡ɪs a͡ɪ dɪfˈɪʃənsi dɪzˈiːz] (IPA) 
Carbamyl Phosphate Synthetase I Deficiency Disease, also known as CPS1 deficiency, is a rare genetic disorder characterized by the body's inability to produce an enzyme called carbamyl phosphate synthetase I. This enzyme plays a crucial role in removing ammonia from the body through the urea cycle. Without enough carbamyl phosphate synthetase I, toxic levels of ammonia can build up, leading to a variety of symptoms including poor feeding, lethargy, vomiting, abnormal movements, and even coma. Although CPS1 deficiency is the scientific term, it is sometimes referred to as carbamyl phosphate synthetase I deficiency or CPS1 enzyme deficiency disease. It is important for medical professionals and caregivers to be aware of these synonyms to ensure proper diagnosis and treatment.
