Mitochondrial dysfunction identified in select other genetic disorders
| Disorder | Mitochondrial defect | Reference by PubMed ID number |
| AOA1 (APTX mutations) | Coenzyme Q10 | 15699391 |
| Desminopathy | CS, mtDNA depletion (35%) | 26097489 |
| Dravet syndrome (SCN1A mutations) | Variable OXPHOS deficiencies | 20392657; 21906962 |
| EXOSC3 and EXOSC8 related diseases | Low Complex I and pyruvate dehydrogenase activities, low mtDNA copy number, increased expression of mitochondrial genes | 28687512; 24989451 |
| GLUT1 deficiency | Complex I | 22156785 |
| GM3 synthase deficiency | Respiratory chain dysfunction in fibroblasts and liver | 22990144 |
| LCHADD | Complex III, COX | 16417669 |
| Limb immobilisation | COX and CS | 19654872 |
| Lysosomal diseases: GM1-gangliosidosis, mucopolysaccharidosis IIIC, multiple sulfatase deficiency, Krabbe disease, Gaucher disease, Niemann Pick disease type C | Multiple OXPHOS deficiencies attributed to excessive production of mitochondrial reactive oxygen species and dysregulated calcium homeostasis with mitochondria-induced apoptosis and neurodegeneration | 28132808 |
| MADD (ETFDH, ETFA or ETFB mutations) | Complex I and II deficiencies; Riboflavin and Coenzyme Q10 responsive | 17412732 |
| Molybdenum cofactor deficiency | COX | 16417669 |
| MTHFR mutations | Complex I deficiency | 21131308 |
| Multiple carboxylase deficiency | Complex III | 16417669 |
| NBIA (PKAN) | Complex III | 16417669 |
| Neonatal haemochromatosis | Complex III (liver) | 16417669 |
| Neuroferritinopathy (FTL1) | Complex I or multiple Complex deficiency | 17142829 |
| NPHS3 (PLCE1 deficiency) | COX | 21365190 |
| Neuronal Ceroid Lipofuscinosis (CLN2 and CLN3-related) | Partial deficiency in fatty acid oxidation enzymes and the storage of subunit c of mitochondrial ATP synthase in fibroblasts | 8971698 |
| ORAI1 related disease | Impaired lipid metabolism and fatty acid oxidation in skeletal muscle, heart and liver due to abnormal store-operated Ca2+ entry | 28132808 |
| Organic acidemias | Coenzyme Q10, multiple OXPHOS deficiencies and free radical induced oxidative damage | 21329767; 28753922; 28753922 |
| Ras/MAPK pathway mutations | Variable OXPHOS deficiencies | 26097489 |
| Rett syndrome (MECP2 mutations) | Variable OXPHOS deficiencies | 26741492 |
| SCAR10 | Coenzyme Q10 | 25182700 |
| Spinal muscular atrophy | Complexes I-IV, mtDNA depletion | 12557011; 25844556 |
| STXBP1 mutation (de novo) | Complex I | 25418441 |
| Zellweger syndrome | Complexes II+III, COX | 25287621; 28753922 |