A case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes diagnosed by urinary mitochondrial gene detection
10.19845/j.cnki.zfysjjbzz.2025.0087
- VernacularTitle:尿液线粒体基因检测确诊线粒体脑病1例报告
- Author:
Shaofeng YAN
1
;
Lijing JIA
1
Author Information
1. Department of Neurology， Hebei Provincial Key Laboratory of Neurology， Ministry of Education Key Laboratory of Clinical Neurology， The Second Hospital of Hebei Medical University， Shijiazhuang 050000， China
- Publication Type:Journal Article
- Keywords:
Mitochondrial encephalomyopathy;
Stroke-like episodes;
m.10158T>C mutation;
Urine;
Gene detection
- MeSH:
Urine
- From:
Journal of Apoplexy and Nervous Diseases
2025;42(5):467-469
- CountryChina
- Language:Chinese
-
Abstract:
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes（MELAS） is a rare hereditary mitochondrial disease that can be diagnosed by detecting mitochondrial gene mutations in peripheral blood and urine. This article analyzes a case of MELAS diagnosed by urinary mitochondrial gene detection， in order to understand the importance of urine specimens in mitochondrial gene detection.
