About hyperammonemia, type ii
What is hyperammonemia, type ii?
Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder characterized by complete or partial lack of the enzyme ornithine transcarbamylase (OTC). OTC is one of six enzymes that play a role in the break down and removal of nitrogen the body, a process known as the urea cycle. The lack of the OTC enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Excess ammonia, which is a neurotoxin, travels to the central nervous system through the blood, resulting in the symptoms and physical findings associated with OTC deficiency. Symptoms include vomiting, refusal to eat, progressive lethargy, and coma.
What are the symptoms for hyperammonemia, type ii?
These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom.
This disease might cause these symptoms:
Decreased body mass index, hepatic steatosis, abnormal eating behavior, aggressive behavior, asterixis, Confusion, delirium.
What are the causes for hyperammonemia, type ii?
Citrullinemia type II is a genetic disease, which means that it is caused by one or more genes not working correctly.
Disease-causing variants in the following gene(s) are known to cause this disease: SLC25A13