Ornithine transcarbamylase deficiency is a little-known rare disease in pediatric hepatology (clinical case)

The article reviews literature and demonstrates personal observation of a preschool patient with ornithine transcarbamylase deficiency. This disease is characterized by an excessive accumulation ammonia in the body, which leads to damage nervous system, gastrointestinal tract, impaired liver function. It has genetically determined mechanism development associated mutations OTC gene. Purpose - study specific aspects manifestation, clinical picture, course diagnosis Clinical case. Girl U. was admitted pediatric hepatology department complaints abdominal pain, periodic vomiting, accompanied high ketones urine test, irritability, tearfulness, emotional lability, increased enzyme levels. Physical exam revealed hepatosplenomegaly. Bloodwork series showed transaminase levels 4-20 times ULN, hyperammonemia, orotic acid urine. A molecular genetic performed, identified variant uncertain significance gene X-linked Metabolic therapy protein-restricted nutrition were prescribed prevent hyperammonemia. Conclusions. Transcarbamylase deficiency rare body typical laboratory symptoms. Detection concentration testing are crucial diagnostic components children diseases other organs systems damage. Untimely treatment correlates severity disease, irreversible changes, disability possible death young age. performed according principles Declaration Helsinki. informed consent child's parents obtained for conducted research. authors declare no conflict interest.