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

TitleHepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene.
Publication TypeJournal Article
Year of Publication2012
AuthorsAlSaman, A, Tomoum, H, Invernizzi, F, Zeviani, M
JournalSaudi J Gastroenterol
Volume18
Issue4
Pagination285-9
Date Published2012 Jul-Aug
ISSN1998-4049
KeywordsFatal Outcome, Humans, Infant, Male, Membrane Proteins, Mitochondrial Myopathies, Mitochondrial Proteins, Mutation
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.

DOI10.4103/1319-3767.98439
Alternate JournalSaudi J Gastroenterol
Citation Key10.4103/1319-3767.98439
PubMed ID22824774
PubMed Central IDPMC3409892
Grant ListGGP07019 / / Telethon / Italy
GPP10005 / / Telethon / Italy