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• W2083171736 abstract "<h3>Background</h3> Autosomal recessive mutations in<i>MPV17</i>(OMIM*137960) have been identified in the hepatocerebral form of mitochondrial DNA depletion syndrome (MDS). <h3>Objective</h3> To describe the clinical, morphologic, and genetic findings in 3 children with<i>MPV17</i>-related MDS from 2 unrelated families. <h3>Design</h3> Case report. <h3>Setting</h3> Academic research. <h3>Main Outcome Measures</h3> We identified 3 novel pathogenic mutations in 3 children. <h3>Results</h3> Two children were homozygous for nonsense mutation p.W120X. A third child was compound heterozygous for missense mutation p.G24W and for a macrodeletion spanning<i>MPV17</i>exon 8. All patients demonstrated lactic acidosis, hypoglycemia, hepatomegaly, and progressive liver failure. Neurologic symptoms manifested at a later stage of the disease. Death occurred within the first year of life in all 3 patients. <h3>Conclusions</h3> These data confirm that<i>MPV17</i>mutations are associated with a 2-stage syndrome. The first symptoms are metabolic and rapidly progress to hepatic failure. This stage is followed by neurologic involvement affecting the central and peripheral systems." @default.
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• W2083171736 date "2008-08-01" @default.
• W2083171736 modified "2023-10-04" @default.
• W2083171736 title "Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome" @default.
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• W2083171736 doi "https://doi.org/10.1001/archneur.65.8.1108" @default.
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