Mitochondrial Complex 1 Deficiency Overview

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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?
Advanced in Mitochondrial Complex 1 Deficiency
Dr. Ronald Buonomano
Internal Medicine
Advanced in Mitochondrial Complex 1 Deficiency
Dr. Ronald Buonomano
Internal Medicine
100 Simsbury Rd, Suite 206, 
Avon, CT 
 (39.9 mi)
860-676-4820
Languages Spoken:
English

Ronald Buonomano is an Internal Medicine provider in Avon, Connecticut. Dr. Buonomano and is rated as an Advanced provider by MediFind in the treatment of Mitochondrial Complex 1 Deficiency. His top areas of expertise are Coenzyme Q Cytochrome C Reductase Deficiency, Mitochondrial Complex 1 Deficiency, Mitochondrial Trifunctional Protein Deficiency, and Mitochondrial Complex 3 Deficiency.

Experienced in Mitochondrial Complex 1 Deficiency
Dr. Sara A. Huss
Physiatry
Experienced in Mitochondrial Complex 1 Deficiency
Dr. Sara A. Huss
Physiatry

Center For Disability Services, Inc

314 S Manning Blvd, 
Albany, NY 
 (37.3 mi)
518-437-5771
Languages Spoken:
English
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Sara Huss is a Physiatrist in Albany, New York. Dr. Huss and is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Complex 1 Deficiency. Her top areas of expertise are Cerebral Palsy, Hemiplegia, Spastic Diplegia Infantile Type, and Moebius Syndrome.

 
 
 
 
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Experienced in Mitochondrial Complex 1 Deficiency
Dr. Kevin J. Felice
Neurology
Experienced in Mitochondrial Complex 1 Deficiency
Dr. Kevin J. Felice
Neurology

Hospital For Special Care

2150 Corbin Ave, 
New Britain, CT 
 (48.3 mi)
860-827-4994
Languages Spoken:
English

Kevin Felice is a Neurologist in New Britain, Connecticut. Dr. Felice and is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Complex 1 Deficiency. His top areas of expertise are Inclusion Body Myositis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Spinal Muscular Atrophy (SMA), and Spinal Muscular Atrophy Type 3.

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