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Mitochondrial disease is an umbrella terms for a range of conditions. Some of IMP’s members have information about the diseases on their websites, please follow the links to find out more. 

Bezoek de website van VKS voor informatie in het Nederlands. 

Visite el sitio web de AEPMI para obtener información en español.

Informationen in deutscher Sprache finden Sie auf der Website der DGM.

Visita il sito web Mitocon per informazioni in italiano.



Conditions associated with mitochondrial disease:

Austosomal dominant optic atrophy (ADOA)     Mito Action     UMDF

Alpers disease     Mito Action    MitoCanada     The Lily Foundation    UMDF

Barth syndrome     Mito Action    UMDF

Beta-oxidation defects     UMDF

Carnitine-acyl-carnitine deficiency      UMDF

Carnitine deficiency     Mito Action    UMDF

Chronic progressive external ophthalmoplegia (CPEO)    Mito Action    MitoCanada     UMDF

Co-enzyme Q10 deficiency     Mito Action    UMDF

Complex I deficiency     UMDF

Complex II deficiency     UMDF

Complex III deficiency     UMDF

Complex IV deficiency     UMDF

Complex V deficiency     UMDF

Cytochrome C oxidase deficiency (COX Deficiency)

Carnitine palmitoyltransferase (CPT) I Deficiency     UMDF

Carnitine palmitoyltransferase (CPT) II Deficiency     UMDF

Creatine deficiency syndromes     Mito Action    UMDF

DNA Polymerase Gamma, Catalytic Subunit (POLG Mutations)     UMDF

Fatty acid oxidation disorders     Mito Action

Friedreich’s ataxia     Mito Action     MitoCanada

Glutaric aciduria type II

Kearns sayre syndrome (KSS)    Mito Action    Mito Foundation     The Lily Foundation     UMDF

Lactic acidosis     The Lily Foundation     MitoCanada     UMDF

Leukodystrohpy (LBSL)     UMDF

Long chain acyl coA dehydrogenase deficiency (LCAD)    MitoCanada     UMDF

Long chain L-3 hydroxyacyl-coA dehydrogenase deficiency (LCHAD)    UMDF


Leber hereditary optic neuropathy (LHON)    Mito Action    MitoCanada     Mito Foundation     The Lily Foundation     UMDF

Leigh disease or syndrome      Mito Action    MitoCanada     Mito Foundation     The Lily Foundation     UMDF

Lethal infantile cardiomyopathy (LIC)

Luft disease     MitoCanada     UMDF

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)     Mito Action    MitoCanada     Mito Foundation     The Lily Foundation     UMDF

Medium chain acyl-CoA dehydrogenase (MCAD)     MitoCanada     UMDF

Mitochondrial carrier related diseases

Mitochondrial cytopathy     UMDF

Mitochondrial DNA depletion     The Lily Foundation     UMDF

Mitochondrial encephalopathy     UMDF

Mitochondrial enoyl CoA reductase protein-associated neurodegeneration (MEPAN)     

Mitochondrial myopathy     Mito Action

Mitochondrial recessive ataxia syndrome (MIRAS)     UMDF

Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE)     Mito Action    MitoCanada     Mito Foundation      UMDF

Multiple acyl-CoA dehydrogenase deficiency (MAD) / Glutaric aciduria type II    UMDF

Multiple mitochondrial DNA deletions    The Lily Foundation  

Multiple Mitochondrial Dysfunction Syndrome    Mito Action 

Myoclonic epilepsy with ragged red fibres (MERRF)  MitoCanada     Mito Foundation     The Lily Foundation     UMDF

Neuropathy, ataxia, and retinitis pigmentosa (NARP)   MitoCanada     Mito Foundation     The Lily Foundation     UMDF

Pearson syndrome     MitoCanada     The Lily Foundation     UMDF

Primary mitochondrial myopathy     Mito Action  

Progressive External Ophthalmoplegia    Mito Foundation

Pyruvate carboxylase deficiency      UMDF

Pyruvate dehydrogenase deficiency     UMDF

Respiratory chain

Short chain acyl-CoA dehydrogenase (SCAD)     MitoCanada     UMDF

Short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD)     UMDF

Thymidine Kinase 2 (TKS) Deficiency   

Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)     UMDF



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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