It is possible that the main title of the rating Ornithine Transcarbamylase Deficiency is not the name you anticipated. Kindly check the basic synonyms providing to discover the alternating name(s) as well as condition subdivision(s) covered by this record.
- OTC shortage
- ornithine carbamyltransferase shortage
- hyperammonemia as a result of ornithine transcarbamylase shortage
Ornithine transcarbamylase (OTC) deficiency is an uncommon X-linked genetic disorder identified by full or partial absence of the enzyme ornithine transcarbamylase (OTC). OTC is one of six enzymes that play a role in the break down and reduction of nitrogen the body, a process referred to as the urea cycle. The absence of the OTC enzyme results in too much accumulation of nitrogen, through ammonia (hyperammonemia), in the blood. Excess ammonia, which is a neurotoxin, travels to the central nervous system with the blood, resulting in the signs and symptoms as well as physical searchings for related to OTC deficiency. Symptoms include throwing up, refusal to eat, dynamic lethargy, and coma.