Ornithine transcarbamylase deficiency (OTC deficiency) is an x-linked genetic disorder characterized by a deficiency of the enzyme ornithine transcarbamylase. OTC enzyme is responsible for breaking down excess ammonia, a byproduct of protein metabolism, and is normally eliminated by the liver. When OTC deficiency is present, ammonia builds up in the body, which can lead to serious health problems.
Symptoms of OTC deficiency may include vomiting, diarrhea, lethargy, and poor feeding in infants, and later in life, intellectual disability and behavioral problems may develop. OTC deficiency is typically diagnosed in newborns through screening tests, and treatment may involve a low-protein diet, medications to reduce ammonia levels, and liver transplantation.