Clinical characteristics and literature review of a case of adult onset of citrullinemiaⅡtreated with liver transplanta-tion
LEI Chuanfen
LI Yuan
LI Qin
LIU Jianping
YANG Xianwei
YANG Jiayin
LU Changli
Abstract：Objective Clinical features of a rare adult onset of citrullinemia type Ⅱ( CTLN2 ) were summarized in favor of its early diagnosis and treatment. Methods The clinical data of one case with CTLN2 were retrospectively analyzed, accompanied with follow-up and literature review. Results The patient was a 18 year old man,who experienced consciousness disturbance for 6 months,and his condition worsen for 1 week. He was admitted to hospital and a high level of plasma citruline was detected. Liver biopsy showed fatty liver and cirrhosis. DNA analysis of the SLC25A13 gene revealed a heterozygous mu-tation of c. 851-854del and an IVS16ins3kb mutation. The detection of his mother' s SLC25A13 gene also showed c. 851-854del heterozygosity mutation. He was successfully treated by liver transplantation. Conclusion Most patients suddenly suf-fer from altered consciousness associated with restlessness,drowsiness,and coma. Biochemical examination showed citrulline-mia or hyperammonia,and pathological features of liver core biopsy were similar to that of non-alcoholic fatty liver ( NAFLD) , while body mass index often lower than 20 kg/m2 . The diagnosis of CTLN2 could be confirmed by the detection of SLC25A13 gene mutation. Liver transplantation can be a promising therapeutic option for CTLN2 patients with liver cirrhosis.
Keywords：Adult onset typeⅡ citrullinemiaClinical featuresSLC25A13 gene mutationLiver transplantation
Publication Date：2018-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 610-613,620 )