Ornithine Translocase Deficiency

Ornithine Translocase Deficiency

Ornithine translocase deficiency is a rare genetic disorder affecting the urea cycle. It results from mutations in the SLC25A15 gene, leading to decreased levels of the enzyme ornithine translocase. This deficiency causes hyperammonaemia, developmental delays, and liver disease. Early diagnosis of ornithine translocase deficiency is vital for effective management.