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 |