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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.
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?

Unmc Physicians

Emile 42nd St, 
Omaha, NE 
 (60.0 mi)
Languages Spoken:
English, American Sign Language, Sign Language, Thai
Accepting New Patients

Pariwat Thaisetthawatkul is a Neurologist in Omaha, Nebraska. Dr. Thaisetthawatkul and is rated as an Advanced provider by MediFind in the treatment of Mitochondrial Complex 1 Deficiency. His top areas of expertise are Stiff Person Syndrome, Chronic Inflammatory Demyelinating Polyneuropathy, Peripheral Neuropathy, and Myasthenia Gravis. Dr. Thaisetthawatkul is currently accepting new patients.

Family Medicine
Family Medicine

Family Practice Associates P.C.

620 E 25th St, Suite 5, 
Kearney, NE 
 (108.3 mi)
Languages Spoken:
English
Accepting New Patients

Amy Herbig is a Family Medicine provider in Kearney, Nebraska. Dr. Herbig and is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Complex 1 Deficiency. Her top areas of expertise are Multiple Myeloma, Attenuated Familial Adenomatous Polyposis, Juvenile Polyposis Syndrome, and Cronkhite-Canada Disease. Dr. Herbig is currently accepting new patients.

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