title: Respiratory chain complex I deficiency in an infant with Ohtahara syndrome.
abstract: We report an infant with complex I deficiency of the mitochondrial respiratory chain whose most conspicuous symptom at presentation was an Ohtahara syndrome. Review of the literature suggest that association of these two conditions is extremely rare. Despite the few cases reported, in our view Ohtahara syndrome should be considered as one of the forms of presentation of mitochondrial dysfunction.
authors.affiliation: Servicio de Neuropediatría, Hospital Clínico Universitario, Facultad de Medicina, Universidad de Santiago de Compostela, La Choupana s/n, 15706 Santiago de Compostela, Spain. pdcastro@usc.es
authors.forename: Manuel
authors.initials: M
authors.lastname: Castro-Gago
authors.forename: Manuel Oscar
authors.initials: MO
authors.lastname: Blanco-Barca
authors.forename: Carmen
authors.initials: C
authors.lastname: Gómez-Lado
authors.forename: Jesús
authors.initials: J
authors.lastname: Eirís-Puñal
authors.forename: Yolanda
authors.initials: Y
authors.lastname: Campos-González
authors.forename: Joaquín
authors.initials: J
authors.lastname: Arenas-Barbero
mesh_terms: D001921:Brain / Q000473:pathology; D042967:Electron Transport Complex I / Q000172:deficiency* / Q000378:metabolism; D014450:Electron Transport Complex III / Q000378:metabolism; D003576:Electron Transport Complex IV / Q000378:metabolism; D004827:Epilepsy; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008931:Mitochondria, Muscle / Q000201:enzymology / Q000378:metabolism / Q000648:ultrastructure; D028361:Mitochondrial Diseases / Q000378:metabolism / Q000473:pathology; D013385:Succinate Dehydrogenase / Q000378:metabolism; D013577:Syndrome
chemical_list: D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV; D042967:Electron Transport Complex I; D014450:Electron Transport Complex III