Mitochondrial Disorders Represented & Information provided for and by
The Children’s Mitochondrial Disease Network

Alpers Disease - Progressive Infantile Poliodystrophy
Barth Syndrome - Lethal Infantile Cardiomyopathy
Beta-oxidation Defects - See - LCAD, LCHAD, MAD, SCAD, SCHAD, VLCAD
Carnitine Deficiency / Myopathy
Cartnitine-Acyl-Carnitine Deficiency
Complex I Deficiency - NADH dehydrogenease (NADH-CoQ Reducatase) Deficiency
Complex II Deficiency - Succinate Dehydrogenase Deficiency
Complex III Deficiency - Ubiquinone-cytrochrome C Oxidoreductase Deficiency
Complex IV Deficiency / Cox Deficiency - Cytochrome C Oxidase deficiency is caused by a defect in Complex IV of the respiratory chain
Complex V Deficiency - ATP Synthase Deficiency
CPEO - Chronic Progressive External Ophthalmoplegia Syndrome
CPT I Deficiency & CPT II Deficiency
Fatty Acid Oxidation Disorders
KSS - Kearns-Sayre Syndrome
Lactic Acidosis - The accumulation of Lactic Acid due to its production exceeding its use. Chronic lactic acidosis is a common symptom of mitochondrial disease.
LCAD - Long-Chain Acyl-CoA Dehydrogenase Deficiency
Leigh Disease or Syndrome Child / Adult - Subacute Narcotising Encephalomyeopathy
LHON – Leber’s Hereditary Optic Neuropathy
Luft Disease
MAD / Glutaric Aciduria Type II – Multiple Acyl-CoA Dehydrogenase Deficiency
MCAD - Medium-Chain Acyl-CoA Dehydrogenase Deficiency
MELAS - Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes
MERRF - Mycolonic Epilepsy and Ragged-Red Fibre Disease
Mitochondrial Unknown Disorders
Mitochondrial Disorders of the Brain & central nervous system
Mitochondrial Cytopathy – General classification for mitochondrial diseases. All diseases listed here are mitochondrial cytopathies.
Mitochondrial DNA Depletion Syndromes - Congenital Myoapthy, Infantile Myopathy, Hepatopathy
Mitochondrial Encephalopathy - Encephalomyopathy, Encephalomyelopathy
Mitochondrial Myopathy - Child, Late-Onset, Adult-Onset
MINGIE - Myoneurogastointestinal Disorder and Encephalopathy
NARP - Neuropathy, Ataxia and Retinitis Pigmentosa
Pearson Marrow Syndrome - Bone Marrow and Pancreas Dysfunction
Pyruvate Carboxylase Deficiency
Pyruvate Dehydrogenase Deficiency (Varied Types)
Mitochondrial Respiratory Chain Disorders - Complex Deficiencies of all Complex’s, either alone or in combination

For further information with respect of any of the mitochondrial diseases/ syndromes listed, please do not hesitate to contact us, to discuss your question or query further or indeed any useful addition you feel we may of missed. Thank You.

For further information on any of the above please feel free to contact us