2024
DOI: 10.3389/fsurg.2024.1348806
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Liver transplantation for mitochondrial DNA depletion syndrome caused by MPV17 deficiency: a case report and literature review

Liu-Yuan Wei,
Xiu-Qi Chen,
Li Huang
et al.

Abstract: ObjectiveTo study the effectiveness of liver transplantation (LT) in treating mitochondrial DNA depletion syndrome (MDS) caused by the MPV17 gene variant.Case presentationA boy aged 2.8 years presented with edema of the lower limbs and abdomen, which persisted for over 10 days and was of unknown origin; this was accompanied by abnormal liver function, intractable hypoglycemia, and hyperlactatemia. During the second week of onset, he developed acute-on-chronic liver failure and was diagnosed with MDS due to hom… Show more

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