Mitochondrial Complex 1 Deficiency
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Mitochondrial Complex 1 Deficiency Overview

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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.
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
Who are the top Mitochondrial Complex 1 Deficiency Local Doctors?
Elite in Mitochondrial Complex 1 Deficiency
Holger Prokisch
Elite in Mitochondrial Complex 1 Deficiency
Holger Prokisch
Munich, BY, DE 

Holger Prokisch practices practicing medicine in Munich, Germany. Mr. Prokisch is rated as an Elite expert by MediFind in the treatment of Mitochondrial Complex 1 Deficiency. He is also highly rated in 32 other conditions, according to our data. His clinical expertise encompasses Mitochondrial Complex 1 Deficiency, Lactic Acidosis, Leigh Syndrome, Deep Brain Stimulation, and Liver Transplant.

Elite in Mitochondrial Complex 1 Deficiency
Agnes Rotig
Elite in Mitochondrial Complex 1 Deficiency
Agnes Rotig
Paris, FR 

Agnes Rotig practices practicing medicine in Paris, France. Ms. Rotig is rated as an Elite expert by MediFind in the treatment of Mitochondrial Complex 1 Deficiency. She is also highly rated in 22 other conditions, according to our data. Her clinical expertise encompasses Leigh Syndrome, Mitochondrial Complex 1 Deficiency, Lactic Acidosis, and Sengers Syndrome.

 
 
 
 
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Elite in Mitochondrial Complex 1 Deficiency
Marketa Tesarova
Elite in Mitochondrial Complex 1 Deficiency
Marketa Tesarova
Prague, PR, CZ 

Marketa Tesarova practices practicing medicine in Prague, Czech Republic. Ms. Tesarova is rated as an Elite expert by MediFind in the treatment of Mitochondrial Complex 1 Deficiency. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses MELAS Syndrome, Mitochondrial Complex 1 Deficiency, Optic Nerve Atrophy, and Leigh Syndrome.

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What are the latest Mitochondrial Complex 1 Deficiency Clinical Trials?
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
Enrollment Status: Recruiting
Publish Date: February 04, 2026

Summary: The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.

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Who are the sources who wrote this article ?

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