中国当代儿科杂志2024，Vol.26Issue(9)：940-945,6.DOI:10.7499/j.issn.1008-8830.2404036
m.8993T>G相关Leigh综合征合并低瓜氨酸血症患儿4例并文献复习
Leigh syndrome caused by the mitochondrial m.8993T>G mutation with hypocitrullinemia:a report of four cases and literature review
李映雪 1王冬娟 2周茂彬 1孙浩轩 1洪思琦 1蒋莉 1郭艺1
作者信息
- 1. 重庆医科大学附属儿童医院神经内科/国家儿童健康与疾病临床医学研究中心/重庆市重点实验室/儿童发育疾病研究教育部重点实验室,重庆 400014
- 2. 重庆医科大学附属儿童医院分子中心,重庆 400014
- 折叠
摘要
Abstract
Objective To explore early diagnostic biological markers for Leigh syndrome caused by the m.8993T>G mutation.Methods A retrospective analysis was performed on the clinical data of four children diagnosed with m.8993T>G mutation-related mitochondrial disease at the Children's Hospital of Chongqing Medical University from January 2014 to January 2024.Additionally,a literature review was conducted.Results All four children had plasma amino acid and acylcarnitine analyses that revealed decreased citrulline levels,and one child was initially identified through neonatal genetic metabolic disease screening.According to the literature review,there were 26 children with mitochondrial disease and hypocitrullinemia caused by the m.8993T>G mutation(including the four children in this study).Among these,12 children exhibited clinical phenotypes of Leigh syndrome or Leigh-like syndrome,while 18 children were identified with hypocitrullinemia and/or elevated levels of 3-hydroxyisovalerylcarnitine(C5-OH)during neonatal genetic metabolic disease screening.Conclusions Hypocitrullinemia may serve as a potential biomarker for the early diagnosis of m.8993T>G mutation-associated Leigh syndrome,detectable as early as during neonatal genetic metabolic disease screening.关键词
Leigh综合征/m.8993T>G/MT-ATP6基因/低瓜氨酸血症/儿童Key words
Leigh syndrome/m.8993T>G/MT-ATP6 gene/Hypocitrullinemia/Child引用本文复制引用
李映雪,王冬娟,周茂彬,孙浩轩,洪思琦,蒋莉,郭艺..m.8993T>G相关Leigh综合征合并低瓜氨酸血症患儿4例并文献复习[J].中国当代儿科杂志,2024,26(9):940-945,6.
