Clinical diagnosis of ornithine transcarbamylase deficiency caused by mutation at site c.284
Objective:To analyze the clinical manifestation,auxiliary examination,treatment and prognosis of ornithine transcarbamylase deficiency so as to improve the ability of clinical diagnosis and treatment.Methods:The clinical manifestations,auxiliary examination,diagnosis and treatment of a patient diagnosed as ornithine transcarbamylase deficiency in the First Affiliated Hospital of Wenzhou Medical University in May 2023 were analyzed retrospectively.Results:The patient was a 14-year-old male with acute onset,showing mental abnormality at first,and progressive disturbance of consciousness after admission.Laboratory examination showed a significant increase in blood ammonia,accompanied by liver function damage.High performance liquid chromatography tandem mass spectrometry analysis showed that the content of citrulline in serum decreased;urine organic acid analysis showed that uracil increased,and gene detection showed that there was a pathogenic mutation in OTC gene,and the mutation site was c.284 T＞C.Although actively treated with hemodialysis,he finally died,as his parents gave up treatment.Conclusion:Ornithine transcarbamylase deficiency is the most common cause of urea cycle disturbance,with severe hyperammonemia as the most prominent feature of laboratory examination.When a significant increase of blood ammonia is found in adolescents and children,the possibility of urea cycle disorders should be considered firstly,metabolic analysis and gene detection should be carried out,and early measures to reduce blood ammonia should be taken to improve the prognosis.
万方数据
维普
