A case report of type Ⅱ citrullinemia in an adult with epileptic seizure onset
10.3969/j.issn.1002-0152.2024.03.008
- VernacularTitle:以痫性发作为表现成人起病的瓜氨酸血症Ⅱ型1例
- Author:
Qian LIU
1
;
Yeqing HUANG
;
Rongjiao YOU
;
Aiqun LIU
;
Mingfan HONG
;
Zhongxing PENG
Author Information
1. 广东药科大学附属第一医院神经内科(广州 510080)
- Keywords:
Citrullinemia;
Hyperammonemia;
Epileptic seizure;
Citrin protein;
Urea cycle disorders;
Genetic mutation;
SLC25A13 gene
- From:
Chinese Journal of Nervous and Mental Diseases
2024;50(3):162-164
- CountryChina
- Language:Chinese
-
Abstract:
A retrospective analysis was performed on one case of adult-onset type Ⅱcitrullinemia(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.
