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 UMD
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 Foundatio 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.

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