What is another word for Ornithine Carbamoyltransferase Deficiency Disease?
Pronunciation: [ˈɔːnɪθˌa͡ɪn kˈɑːbɐmˌɔ͡ɪltɹɐnsfˌɜːɹe͡ɪz dɪfˈɪʃənsi dɪzˈiːz] (IPA) 
Ornithine Carbamoyltransferase Deficiency Disease, also known as OTC deficiency, is a rare genetic disorder that affects the urea cycle. This condition leads to a lack of the enzyme ornithine carbamoyltransferase, which is responsible for converting toxic ammonia into urea for excretion. As a result, ammonia builds up in the blood, leading to various symptoms and complications.
While commonly referred to as OTC deficiency, this condition can also be called ornithine transcarbamylase deficiency or carbamoylphosphate synthetase 1 deficiency. These alternative names highlight the different enzymes or steps involved in the urea cycle that are affected by the condition. They all ultimately point to the same disorder, which requires close monitoring and management to prevent toxic ammonia levels and ensure the patient's well-being.
