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Mitochondrial Conditions

Alpers Disease (Progressive Infantile Poliodystrophy); Barth syndrome (Cardiomyopathy-Neutropenia Syndrome) / Lethal Infantile Cardiomyopathy (LIC); Beta-oxidation Defects; Carnitine Deficiency and Disorders; Chronic Progressive External Ophthalmoplegia Syndrome (CPEO); Kearns-Sayre Syndrome (KSS); Lactic Acidosis; Leber Hereditary Optic Neuropathy (LHON); Leigh Disease (Subacute Necrotizing Encephalomyelopathy); Long-Chain Acyl-CoA Dehydrogenase (LCAD) Deficiency; Luft Disease; Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency; Mitochondrial Cytopathy; Mitochondrial Encephalomyopathy Lactic Acidosis and Strokelike Episodes (MELAS); Mitochondrial Encephalopathy; Mitochondrial Myopathy; Multiple Acyl-CoA Dehydrogenase (MAD) Deficiency / Glutaric Aciduria Type II; Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); Myoneurogastointestinal Disorder and Encephalopathy (MNGIE); Neuropathy Ataxia and Retinitis Pigmentosa (NARP); Pearson Syndrome; Pyruvate Carboxylase Deficiency; Pyruvate Dehydrogenase Deficiency (PHD); Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency

Respiratory Chain Disorders: Complex I: NADH dehydrogenase (NADH-CoQ reductase) deficiency, Complex II: Succinate dehydrogenase deficiency, Complex III: Ubiquinone-cytochrome c oxidoreductase deficiency, Complex IV: Cytochrome c oxidase (COX) deficiency, Complex V: ATP synthase deficiency

United Mitochondrial Disease Foundation (UMDF) - see subject list
8085 Saltsburg Road, Suite 201, Pittsburgh, PA 15239
Phone: 412.793.8077 - Fax 412.793.6477
J.U.M.P. Foundation (Juvenile Unknown Mitochondrial Problems)
2232 South Main Street, #130, Ann Arbor, MI 48103
Phone: 313.327.5070
International Mitochondrial Disease Network (IMDFN)
E-mail : 
Barth syndrome Family Network
Web site:
Children's Mitochondrial Disease Network, United Kingdom, information and questions

Also See:

Glossary: Mitochondrial and Metabolic Diseases, (.pdf) Mitochondrial and Metabolic Disease Center, University of California San Diego

To locate a genetic counselor or clinical geneticist in your area:

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Genetics Education Center
University of Kansas Medical Center © 1995-2012
Debra Collins, M.S. CGC, Genetic Counselor,


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