What’s ornithine transcarbamylase deficiency?

Ornithine transcarbamylase deficiency is a genetic disorder that affects the liver’s ability to convert ammonia to urea, leading to hyperammonemia and various complications. Treatment includes medication and a low protein diet, but infants often suffer permanent brain damage, coma, and death. Diagnosis is made through laboratory analysis, and immediate treatment is necessary for severe cases. […]

Skip to content