Mitochondrial disease (mito) is an umbrella term for a range of conditions. Some of IMP’s members have information about specific types of mito on their websites. The information can be found in different languages by following the links below. (Please note that some members have information about conditions that aren’t mito.)
Conditions associated with mitochondrial disease:
We have put together a list of useful links relating to different conditions associated with mitochondrial disease, drawing largely from our member’s websites. Where our members don't have info on specific conditions, we have included links to other reliable sources of information.
If you find other useful sources of information, please do let us know.
| Austosomal dominant optic atrophy (ADOA) | GARD | ||||
| Alpers disease | Mito Action | Mito Canada | The Lily Foundation | UMDF | |
| Barth syndrome | Mito Action | UMDF | |||
| Beta-oxidation defects | UMDF | ||||
| Carnitine-acyl-carnitine deficiency | GARD | ||||
| Carnitine deficiency | GARD | ||||
| Chronic progressive external ophthalmoplegia (CPEO) | Mito Action | Mito Canada | UMDF | ||
| Co-enzyme Q10 deficiency | Mito Action | GARD | |||
| Complex I deficiency | UMDF | ||||
| Complex II deficiency | GARD | ||||
| Complex III deficiency | UMDF | ||||
| Complex IV deficiency | UMDF | ||||
| Complex V deficiency | GARD | ||||
| Cytochrome C oxidase deficiency (COX Deficiency) | UMDF | ||||
| Carnitine palmitoyltransferase (CPT) I Deficiency | GARD | ||||
| Carnitine palmitoyltransferase (CPT) II Deficiency | Orphanet | ||||
| Creatine deficiency syndromes | Mito Action | GARD | |||
| DNA Polymerase Gamma, Catalytic Subunit (POLG Mutations) | UMDF | POLG Foundation | AEPMI | ||
| Fatty acid oxidation disorders | Mito Action | NIH | |||
| Friedreich’s ataxia | Mito Action | ||||
| Glutaric aciduria type II | NORD | ||||
| Kearns sayre syndrome (KSS) | Mito Action | The Lily Foundation | UMDF | ||
| Leukodystrohpy (LBSL) | UMDF | ||||
| Long chain acyl coA dehydrogenase deficiency (LCAD) | GARD | AEPMI | |||
| Long chain L-3 hydroxyacyl-coA dehydrogenase deficiency (LCHAD) | GARD | AEPMI | |||
| LHAD | |||||
| Leber hereditary optic neuropathy (LHON) | Mito Action | Mito Canada | Mitocon | The Lily Foundation | UMDF |
| Leigh disease or syndrome | Mito Action | Mito Canada | Mito Foundation | The Lily Foundation | UMDF |
| Lethal infantile cardiomyopathy (LIC) | GARD | ||||
| Luft disease | Mito Canada | UMDF | AEPMI | ||
| Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) | Mito Action | Mito Canada | Mito Foundation | Mitocon | UMDF |
| Medium chain acyl-CoA dehydrogenase (MCAD) | Mito Canada | UMDF | GARD | ||
| Mitochondrial carrier related diseases | |||||
| Mitochondrial cytopathy | NIH | ||||
| Mitochondrial DNA depletion | The Lily Foundation | UMDF | Mitocon | AEPMI | |
| Mitochondrial encephalopathy | UMDF | AEPMI | |||
| Mitochondrial enoyl CoA reductase protein-associated neurodegeneration (MEPAN) | UMDF | AEPMI | |||
| Mitochondrial myopathy | Mito Action | ||||
| Mitochondrial recessive ataxia syndrome (MIRAS) | UMDF | AEPMI | |||
| Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) | Mito Action | Mito Canada | UMDF | ||
| Multiple acyl-CoA dehydrogenase deficiency (MAD) / Glutaric aciduria type II | GARD | ||||
| Multiple mitochondrial DNA deletions | The Lily Foundation | ||||
| Multiple Mitochondrial Dysfunction Syndrome | Mito Action | ||||
| Myoclonic epilepsy with ragged red fibres (MERRF) | Mito Canada | Mito Foundation | The Lily Foundation | UMDF | Mitocon |
| Neuropathy, ataxia, and retinitis pigmentosa (NARP) | Mito Canada | Mito Foundation | The Lily Foundation | GARD | Mitocon |
| Pearson syndrome | Mito Canada | The Lily Foundation | UMDF | AEPMI | |
| Primary mitochondrial myopathy | Mito Action | AEPMI | |||
| Progressive External Ophthalmoplegia | Mito Foundation | ||||
| Pyruvate carboxylase deficiency | GARD | ||||
| Pyruvate dehydrogenase deficiency | UMDF | ||||
| Respiratory chain | |||||
| Short chain acyl-CoA dehydrogenase (SCAD) | Mito Canada | GARD | AEPMI | ||
| Short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) | GARD | AEPMI | |||
| Thymidine Kinase 2 (TKS) Deficiency | Take on TK2d | UMDF | AEPMI | ||
| Very long chain acyl-CoA dehydrogenase deficiency (VLCAD) | GARD | AEPMI |
The information on the IMP website is for general use only. Please speak with your doctor about your personal situation.
IMP is not responsible for content on any websites linked to from this site - the inclusion of any such links does not necessarily imply a recommendation or endorse the views expressed within them.