Thelansis

 Ornithine transcarbamylase (OTC) deficiency is an X-linked recessive disorder within the group of urea cycle disorders, leading to hyperammonemia. This disorder results from a deficiency in the enzyme responsible for catalyzing the formation of citrulline through the condensation of carbamyl phosphate and ornithine. In the absence of functional ornithine transcarbamylase, carbamyl phosphate accumulates in the cytoplasm, becoming available for de novo pyrimidine biosynthesis, consequently elevating levels of orotic and uracil in urine. Initial symptoms often include vomiting, increasing lethargy, irritability, and refusing to eat. Males tend to exhibit more severe symptoms and have a less favorable prognosis. The diagnosis of OTC deficiency relies on clinical manifestations, with plasma ammonia levels usually elevated (>200 µmol/L) when encephalopathy is present. Plasma amino acid analysis typically reveals decreased citrulline and arginine levels and increased glutamine. Urine orga