Đặc điểm kiểu hình của cơn cấp rối loạn chuyển hoá bẩm sinh chu trình ure tại Bệnh viện Nhi trung ương

Abstract

This study aims to describe the phenotype characteristics of acute decompensated episodes of  Urea Cycle Disorder (UCD). A descriptive study was carried out from 2014 to June 2021. A total of 32 children presented an acute episode of UCD at the Vietnam National Children's Hospital was analyzed. Clinical characteristics of the 1^st acute episode of 32 patients were: median onset age of 25 months (3 days - 108 months), acute encephalopathy syndrome with vomiting (81.3%), poor feeding (75%), then coma/lethargy (71.9%) and convulsions (15.6%). Biochemical characteristics of the 1^st acute crisis were: hyperammonemia (65.6%) with a median of 402 µmol/l (184 - 1304 µmol/l), increased transaminase (70%), decreased prothrombin time (86.4%). Most of the patients were hospitalized on severe condition with 95% of hyperlactatemia and 33.3% of metabolic acidosis. Conclusion: Acute episodes of UCD could occur at any age with characteristics of acute encephalopathy syndrome. Routine plasma amoniac measurement for all patients with acute encephalopathy is necessary to avoid late diagnosis.