A case report of type II citrullinemia in an adult with epileptic seizure onset
Journal Title: Chinese Journal of Nervous and Mental Diseases - Year 2024, Vol 50, Issue 3
Abstract
A retrospective analysis was performed on one case of adult-onset type â…¡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.
Authors and Affiliations
Qian LIU, Yeqing HUANG, Rongjiao YOU, Aiqun LIU, Mingfan HONG, Zhongxing. PENG
Keywords
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- EP ID EP750454
- DOI 10.3969/j.issn.1002-0152.2024.03.008
- Views 48
- Downloads 0
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