What is another word for Carbamoylphosphate Synthetase I Deficiency Disease?
Pronunciation: [kˈɑːbɐmˌɔ͡ɪlfəsfˌe͡ɪt sˈɪnθɪtˌe͡ɪs a͡ɪ dɪfˈɪʃənsi dɪzˈiːz] (IPA) 
Carbamoylphosphate Synthetase I Deficiency Disease is a rare genetic disorder characterized by the impaired function of the enzyme carbamoylphosphate synthetase I. This enzyme plays a crucial role in the urea cycle, responsible for the removal of toxic ammonia from the body. Synonyms for this disorder include carbamoylphosphate synthetase I deficiency, CPS1 deficiency disease, and CPS1D.
Individuals with this condition often experience symptoms such as lethargy, poor feeding, vomiting, seizures, and developmental delays. Early diagnosis and treatment are essential to prevent life-threatening complications. A low-protein diet and specific medications may be recommended to manage symptoms and reduce ammonia buildup. Carbamoylphosphate Synthetase I Deficiency Disease requires long-term medical management and coordinated care by a multidisciplinary healthcare team.
