Saudi Journal of Gastroenterology

CASE REPORT
Year
: 2012  |  Volume : 18  |  Issue : 4  |  Page : 285--289

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


Abdulaziz AlSaman1, Hoda Tomoum2, Federica Invernizzi3, Massimo Zeviani3 
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

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.


How to cite this article:
AlSaman A, Tomoum H, Invernizzi F, Zeviani M. Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene.Saudi J Gastroenterol 2012;18:285-289


How to cite this URL:
AlSaman A, Tomoum H, Invernizzi F, Zeviani M. Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene. Saudi J Gastroenterol [serial online] 2012 [cited 2019 Aug 23 ];18:285-289
Available from: http://www.saudijgastro.com/article.asp?issn=1319-3767;year=2012;volume=18;issue=4;spage=285;epage=289;aulast=AlSaman;type=0