Respiratory chain complex I deficiency in an infant with Ohtahara syndrome.
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.
Castro-Gago
Manuel
M
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
Blanco-Barca
Manuel Oscar
MO
Gómez-Lado
Carmen
C
Eirís-Puñal
Jesús
J
Campos-González
Yolanda
Y
Arenas-Barbero
Joaquín
J
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
D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV; D042967:Electron Transport Complex I; D014450:Electron Transport Complex III