title: Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene.
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.
authors: Department of Pediatric Neurology, King Fahad Medical City, Riyadh, Saudi Arabia. aalsaman@kfmc.med.sa
authors: Abdulaziz
authors: A
authors: AlSaman
authors: Hoda
authors: H
authors: Tomoum
authors: Federica
authors: F
authors: Invernizzi
authors: Massimo
authors: M
authors: Zeviani
mesh_terms: D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D017240:Mitochondrial Myopathies / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D028361:Mitochondrial Diseases
chemical_list: C530370:MPV17 protein, human; D008565:Membrane Proteins; D024101:Mitochondrial Proteins