Analysis Of Clinical Characteristics And Treatment In Children With Urea Cycle Disorders

Objective:Analysis the characteristics data in children with urea cycle disorders,in order to improve the level of diagnosis and treatment of this disease.Methods:Totally 6 cases were enrolled in this study.And combining the literature to analysis the clinical characteristics,the process of diagnosis and treatment of three different typing in children with urea cycle disorder.Results:Three girls and three boys all developed clinical symptoms after neonatal period,The age onset ranged from 1 month to 8 years.Both of them were misdiagnosed as other disorders in the early course of disease.Among 6 patients,5 have unconsciousness,4 with seizures,4 with vomiting and 2 had respiratory rhythm change;3 cases have abnormal family history;Blood ammonia levels range from 10-413umol/L in early course of disease;and the peak concentration rang from 10-1714umol/L.4 cases had liver dysfunction;Almost all have abnormal MS-MS and GS-MS results;Genetic test analysis comfirmed 4 are ornithine transcabamylase deficiency,the other two are are carbamyl phosphate synthetase 1 deficiency and citrin deficiency.Completed follow-up of all children,only one died,but 2 had psychomotor retardation.Conclusions:The clinical features of UCDs are nonspecific,easily confused with other diseases.A UCD should be suspected in people if there are any neurological symptoms, hepatic-gastrointestinal and psychiatric manifestations can’t be explained exactly. Blood ammonia is the basic examination;secondly, MS-MS analysis of the blood sample and GC-MS analysis of urine sample can help diagnose,but gene analysis can comfirm the diagnosis and typing.