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

Abdulaziz Alsaman, Hoda Tomoum, Federica Invernizzi, Massimo Zeviani

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)285-289
Number of pages5
JournalSaudi Journal of Gastroenterology
Volume18
Issue number4
DOIs
Publication statusPublished - Jul 2012

Keywords

  • Case report
  • mitochondrial
  • mitochondrial depletion
  • MPV17

ASJC Scopus subject areas

  • Gastroenterology

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