[Leigh Disease due to deficiency of mitochondrial respiratory chain complexes I, III and IV].
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.
Mallo Castaño
J
J
Servicio de Pediatría, Hospital de León, León, Spain.
Castañón López
L
L
Herrero Mendoza
B
B
Robles García
B
B
Goded Rambaud
F
F
D045222:Electron Transport Chain Complex Proteins / Q000172:deficiency*; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000209:etiology*; D008297:Male
D045222:Electron Transport Chain Complex Proteins