Saudi Journal of Gastroenterology
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Year : 2012  |  Volume : 18  |  Issue : 4  |  Page : 285-289

Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene

1 Department of Pediatric Neurology, King Fahad Medical City, Riyadh, Saudi Arabia
2 Department of Pediatric Neurology, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Pediatrics, Ain Shams University, Cairo, Egypt
3 Unit of Molecular Neurogenetics, Fondazione Istituto Neurologico "Carlo Besta", Milano, Italy

Correspondence Address:
Abdulaziz AlSaman
King Fahad Medical City, Department of Pediatric Neurology, P.O. Box 59046, Riyadh 11525, of Saudi Arabia

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Source of Support: This work was supported by Telethon grants GGP07019 and GPP10005 to Massimo Zeviani, Conflict of Interest: None

DOI: 10.4103/1319-3767.98439

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Mitochondrial DNA depletion syndromes (MDSs) are autosomal recessive diseases characterized by a severe decrease in mitochondrial DNA content leading to dysfunction of the affected organ. Autosomal recessive mutations in MPV17 have been identified in the hepatocerebral form of MDS. We describe the clinical features, biochemical and molecular results of a Saudi infant with a new mutation of MPV17 and compared the features to those of previously reported cases. We stress the importance of such rare cases particularly in countries with high consanguineous marriage rate.

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