以痫性发作为表现成人起病的瓜氨酸血症Ⅱ型1例  

A case report of typeⅡcitrullinemia in an adult with epileptic seizure onset

作　　者：刘倩 黄叶青[1] 游荣娇 刘爱群[1] 洪铭范[1] 彭忠兴[1] LIU Qian;HUANG Yeqing;YOU Rongjiao;LIU Aiqun;HONG Mingfan;PENG Zhongxing(Department of Neurology,the First Affiliated Hospital of Guangdong Pharmaceutical University,Guangzhou 510080,China)

机构地区：[1]广东药科大学附属第一医院神经内科,广州510080

出　　处：《中国神经精神疾病杂志》2024年第3期162-164,共3页Chinese Journal of Nervous and Mental Diseases

基　　金：教育部产研合作协同育人项目(编号:22087043062156);广东药科大学2022年度本科教学质量与教学改革工程项目校级项目(编号:45)。

摘　　要：对SLC25A13基因纯合变异引起以痫性发作为表现的成人起病的瓜氨酸血症Ⅱ型(adult-onset typeⅡcitrullinemia,CTLN2)1例进行回顾性分析。患者,男,28岁,反复四肢抽搐4年余,再发加重2个月,平素喜食花生及肉类。头颅MRI检查未见异常,予抗癫痫治疗效果不佳,进一步查血转氨酶、血氨和瓜氨酸升高,基因检测显示SLC25A13基因c.851_854del纯合致病突变,诊断为CTLN2,予高蛋白、高脂肪、低糖饮食和精氨酸治疗,随访半年无痫性发作。对反复痫性发作伴有特殊饮食嗜好者应注意CTLN2可能,基因检测对CTLN2的诊断具有重要作用,可为临床诊治提供依据。A retrospective analysis was performed on one case of adult-onset type Ⅱ citrullinemia(CTLN2) caused by homozygous mutations of SLC25A13 genes. The patient, a 28-year-old male, had repeated limb convulsions for more than 4 years and worsened for 2 months. He usually liked to eat peanuts and meat. The brain MRI examination showed no abnormality, and anti-epileptic treatment was not effective. Further examination of blood aminotransferase, blood ammonia and citrulline were elevated, genetic testing showed that the SLC25A13 gene c. 851_854del homozygous pathogenic mutation, the diagnosis was CTLN2, and the treatment was treated with a high-protein, high-fat, low-sugar diet and arginine, and there were no seizures followed up for half a year. Patients with recurrent seizures with special dietary preferences should be paid attention to the possibility of CTLN2, and genetic testing plays an important role in the diagnosis of CTLN2 and provides a basis for clinical diagnosis and treatment.

关 键 词：瓜氨酸血症 高氨血症 痫性发作 希特林蛋白 尿素循环障碍 基因突变 SLC25A13基因 

分 类 号：R74[医药卫生—神经病学与精神病学] R596.1[医药卫生—临床医学]