[Mitochondrial encephalopathies].
OBJECTIVE
We carry out a review of the current basic genetic, biochemical, clinical, diagnostic and therapeutic aspects of mitochondrial cytopathies due to deficiencies in the mitochondrial respiratory chain complexes, which appear clinically during childhood and/or adolescence.


METHODS
The clinical description has been divided into two groups: mitochondrial cytopathies secondary to alterations of mitochondrial DNA (mtDNA) and mitochondrial cytopathies secondary to alterations of the nuclear DNA (nDNA); we also consider about the importance of such conditions at this age.
Castro-Gago
M
M
Departamento de Pediatría, Hospital Clínico-Universitario, Complejo Hospitalario Universitario, SERGAS, Santiago de Compostela, España.
Novo-Rodríguez
M I
MI
Pintos-Martínez
E
E
Campos
Y
Y
Arenas
J
J
Eirís-Puñal
J
J
D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D004579:Electron Transport / Q000502:physiology; D006801:Humans; D019344:Lactic Acid / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis* / Q000209:etiology; D017354:Point Mutation / Q000235:genetics
D004272:DNA, Mitochondrial; D019344:Lactic Acid