Characteristics of Argininemia and Effect of Liver Transplantation-the Largest Experience in China

Background: Argininemia is a rare urea cycle disorder due to arginase-1 deficiency, characterized by progressive spastic paraplegia. Coagulation dysfunction has been reported in few researches, and the pathophysiology is still unclear. Advances in diagnosis and treatment have increased the number of patients receiving effective management; however, not all symptoms are prevented under traditional treatments, and there is no consensus on liver transplantation (LT) for the treatment of patients with argininemia. Methods: We conducted a retrospective study of patients who had been done LT in our center between January 2015 and November 2019. Eleven patients with argininemia were included for their poor response to protein restriction dietary and alternative therapy of nitrogen scavengers. The details on coagulation, liver function, histopathological and morphological examination of liver samples, and other clinical presentations were extracted. The Grading Scale for evaluating neurological status and classification of physical growth and quality of life was used to assess the effect of LT. Results: All patients demonstrated hyperarginine, progressive neurological impairments, among whom nine patients presented coagulation dysfunction pre-oparation. After LT, the coagulation index and plasma arginine returned to normal in all patients, and neurological symptoms, growth deficit, and quality of life improved significantly without any severe complications. All patients survive to date. Conclusions: Our findings indicated that coagulation abnormality was a typical presentation of argininemia. LT can prevent progressive neurological impairment and restore metabolic disorders entirely.