Learn About Mitochondrial Complex 1 Deficiency

What is the definition of Mitochondrial Complex 1 Deficiency?
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. Features may include macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by genetic changes in any of many genes and the inheritance pattern depends on the responsible gene.
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What are the alternative names for Mitochondrial Complex 1 Deficiency?
  • Mitochondrial complex I deficiency
  • Complex 1 mitochondrial respiratory chain deficiency
  • Isolated NADH-CoQ reductase deficiency
  • Isolated NADH-coenzyme Q reductase deficiency
  • Isolated NADH-ubiquinone reductase deficiency
  • Isolated complex I deficiency
  • Isolated mitochondrial respiratory chain complex I deficiency
  • Mitochondrial NADH dehydrogenase component of complex I, deficiency of
  • NADH coenzyme Q reductase deficiency
  • NADH:Q(1) Oxidoreductase deficiency
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What are the latest Mitochondrial Complex 1 Deficiency Clinical Trials?
A Phase 3 Randomized, Double-Blind, Parallel-Group, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Subjects With Primary Mitochondrial Disease Resulting From Pathogenic Nuclear DNA Mutations (nPMD) NuPower

Summary: SPIMD-301 is a 48-week, randomized, double-blind, parallel-group, placebo-controlled trial to assess efficacy and safety of single daily subcutaneous (SC) administration of elamipretide as a treatment for subjects with primary mitochondrial myopathy associated with nuclear DNA mutations (nPMD).

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Mitochondrial Complex 1 Deficiency?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.