| Citation: |
LI Ran, LIAO Jinhao, FU Hanhui, PAN Hui, LI Yuxiu, MAO Jiangfeng, YANG Hongbo, ZHANG Huabing. A Case Report of Mitochondrial Diabetes Mellitus Caused by Large FragmentDeletion of Mitochondrial Gene and Literature Review[J]. Medical Journal of Peking Union Medical College Hospital, 2025, 16(3): 634-640. DOI: 10.12290/xhyxzz.2024-0285
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Mitochondrial diabetes mellitus (MDM) is a genetically heterogeneous disorder caused by mitochondrial DNA (mtDNA) or nuclear DNA mutations, characterized by multi-system involvement and diverse clinical phenotypes. We report a pediatric case presenting with growth retardation followed by subsequent development of diabetes mellitus. Systematic evaluation revealed concurrent bilateral sensorineural hearing loss, bilateral basal ganglia calcification, and electroencephalographic abnormalities. A post-exercise lactate test demonstrated significant elevation of serum lactate levels immediately after physical exertion. Genetic analysis identified a large-scale mitochondrial DNA deletion spanning from m.8649 to m.16084. This case report is complemented by a literature review focusing on the pathogenesis, genetic characteristics, and therapeutic approaches of mitochondrial diabetes, with particular emphasis on mitochondrial disorders exhibiting large-scale mtDNA deletions alongside diabetic manifestations. Our comprehensive analysis aims to enhance clinical understanding and inform diagnostic strategies for this complex disease entity.
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