Mitochondrial complex I deficiency
Other Names for this Disease
- Complex 1 mitochondrial respiratory chain deficiency
- NADH coenzyme Q reductase deficiency
- Mitochondrial NADH dehydrogenase component of complex I, deficiency of
- NADH:Q(1) Oxidoreductase deficiency
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leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene. Treatment is only sometimes effective and may include metabolic therapies such as riboflavin, thiamine, biotin, co-enzyme Q10, carnitine, and a ketogenic diet (a special high-fat, low-carbohydrate diet).Mitochondrial complex I deficiency is a type of mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. Complex I is the first step in a chain reaction in mitochondria leading to energy production. Signs and symptoms of complex I deficiency vary widely in nature and severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Features may include macrocephaly (large head) with progressive
Last updated: 4/18/2014
- Cassandra L. Kniffin. MITOCHONDRIAL COMPLEX I DEFICIENCY. OMIM. September 17, 2013; http://www.omim.org/entry/252010. Accessed 4/18/2014.
- Types of Mitochondrial Disease. United Mitochondrial Disease Foundation. http://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934629. Accessed 4/18/2014.
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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Mitochondrial complex I deficiency. Click on the link to view a sample search on this topic.