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

Saudi J Gastroenterol. 2012 Jul-Aug;18(4):285-9. doi: 10.4103/1319-3767.98439.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Fatal Outcome
  • Humans
  • Infant
  • Male
  • Membrane Proteins / genetics*
  • Mitochondrial Myopathies / diagnosis*
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / therapy
  • Mitochondrial Proteins / genetics*
  • Mutation / genetics*


  • MPV17 protein, human
  • Membrane Proteins
  • Mitochondrial Proteins

Supplementary concepts

  • Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive