Complex I Deficiency

Complex I deficiency is the most common mitochondrial enzyme deficiency identified in children with mitochondrial cytopathy. Mutations can occur in either the mitochondrial DNA (e.g., ND1 and ND4) or nuclear DNA (e.g., NDUFV1 and NDUFS1). Leigh disease is characterized by psychomotor regression and often shows a predominantly gray matter involvement on MRI, although up to 28% of cases can initially present with a leukodystrophic pattern on MRI …