What is another word for Deficiency Disease Carbamoyl Phosphate Synthase?
Pronunciation: [dɪfˈɪʃənsi dɪzˈiːz kˈɑːbɐmˌɔ͡ɪl fˈɒsfe͡ɪt sˈɪnθe͡ɪs] (IPA) 
Carbamoyl phosphate synthase deficiency disease is a rare genetic disorder that affects the body's ability to produce an enzyme called carbamoyl phosphate synthase. This enzyme is crucial for the synthesis of important molecules involved in various metabolic processes. In individuals with this condition, the lack or dysfunction of carbamoyl phosphate synthase results in the accumulation of toxic substances and the inadequate production of necessary molecules. Although the term "deficiency disease carbamoyl phosphate synthase" specifically refers to this disorder, it can also be described by various synonymous terms, including carbamoyl phosphate synthetase I deficiency, CPS1 deficiency, and ornithine transcarbamylase deficiency. Early diagnosis and treatment are essential to manage the symptoms and prevent life-threatening complications associated with this deficiency disease.
