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Mitochondrial Diseases

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Definition: Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.  GEN or unspecified; prefer specifics   
Examples Carbamoyl-Phosphate Synthase I Deficiency Disease; Cytochrome-c Oxidase Deficiency; Friedreich Ataxia; Kearns-Sayre Syndrome; Leigh Disease; Mitochondrial Myopathies; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Optic Atrophy, Autosomal Dominant; Optic Atrophy, Hereditary, Leber; Pyruvate Carboxylase Deficiency Disease; Pyruvate Dehydrogenase Complex Deficiency Disease 		Other names Respiratory Chain Deficiency; Phosphorylation Deficiency, Oxidative; Phosphorylation Deficiencies, Oxidative; Oxidative Phosphorylation Deficiency; Mitochondrial Disorder; Mitochondrial Disease; Disorders, Mitochondrial; Disorder, Mitochondrial; Disease, Mitochondrial; Deficiency, Respiratory Chain; Deficiency, Oxidative Phosphorylation; Deficiencies, Oxidative Phosphorylation; Mitochondrial Respiratory Chain Deficiencies; Deficiencies, Respiratory Chain; Mitochondrial Electron Transport Chain Deficiencie; Mitochondrial Disorders; Respiratory Chain Deficiencies, Mitochondrial; Oxidative Phosphorylation Deficiencies; Electron Transport Chain Deficiencies, Mitochondri
 
SubstanceCAS Registry & nameCategoriesSource
Mitochondrial complex I deficiency  0   *Mitochondrial Diseases Electron Transport Complex I/deficiency.
Sarcosinemia  0   *Amino Acid Metabolism, Inborn Errors *Mitochondrial Diseases Sarcosine Dehydrogenase/deficiency.
VLCAD deficiency  0   *Lipid Metabolism, Inborn Errors *Muscular Diseases *Mitochondrial Diseases Acyl-CoA Dehydrogenase, Long-Chain/deficiency.
Pearson's marrow-pancreas syndrome  0   *Anemia, Sideroblastic *Mitochondrial Diseases.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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