title: [Leigh Disease due to deficiency of mitochondrial respiratory chain complexes I, III and IV].
abstract: Leigh disease is a clinically heterogeneous and infrequent disorder in the pediatric age group. Inheritance is variable. It results from a genetic defect producing deficiencies in enzyme complexes and functional disturbance of the mitochondria. The prognosis is poor and effective treatment is lacking. We present the case of a 1-month-old boy with early manifestation and rapid progression of Leigh disease due to deficiency of mitochondrial respiratory chain complexes I, III and IV.
authors.affiliation: Servicio de Pediatría, Hospital de León, León, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Mallo Castaño
authors.forename: L
authors.initials: L
authors.lastname: Castañón López
authors.forename: B
authors.initials: B
authors.lastname: Herrero Mendoza
authors.forename: B
authors.initials: B
authors.lastname: Robles García
authors.forename: F
authors.initials: F
authors.lastname: Goded Rambaud
mesh_terms: D045222:Electron Transport Chain Complex Proteins / Q000172:deficiency*; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000209:etiology*; D008297:Male
chemical_list: D045222:Electron Transport Chain Complex Proteins