Table 1.

Nuclear genes involved in OXPHOS causing Leigh and Leigh-like syndrome

Biochemical defect	Associated nuclear genes
Complex I Deficiency	NDUFA1, NDUFA2, NDUFA9, NDUFA10, NDUFA12, NDUFS1, NDUFS2, NDUFS3, NDUFB8, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV2
Complex II Deficiency	SDHA
Complex III Deficiency	UQCRQ
Complex IV Deficiency	NDUFA4, COX8A
Assembly factors deficiency
Complex I	NDUFAF2, NDUFAF4, NDUFAF5, NDUFAF6, C17ORF89, FOXRED1, NUBPL
Complex II	SDHAF1
Complex III	BCS1L, TTC19
Complex IV	SURF1, COX10, COX15, SCO2, PET100
Cofactors and biosynthesis
Pyruvate Dehydrogenase Complex	PDHA1, PDHX, PDHB, DLAT, DLD
Biotinidase Deficiency	BTD
Thiamine Deficiency	TPK1, SLC19A3
Lipoic acid	LIPT1, LIAS, BOLA3
Amino acid	HIBCH, ECHS1
Coenzyme Q10 Deficiency	PDSS2, COQ9