Cytochrome C Oxidase Deficiency Overview

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Learn About Cytochrome C Oxidase Deficiency

What is the definition of Cytochrome C Oxidase Deficiency?
Cytochrome c oxidase deficiency (COX deficiency) is a condition that can affect several parts of the body including the skeletal muscles, heart, brain, and liver. There are four types of COX deficiency differentiated by symptoms and age of onset: benign infantile mitochondrial type, French-Canadian type, infantile mitochondrial myopathy type, and Leigh syndrome. The range and severity of signs and symptoms can vary widely among affected individuals (even within the same subtype and same family) and depend on the form of the condition present. Features in mildly affected individuals may include muscle weakness and hypotonia; in more severely affected individuals, brain dysfunction; heart problems; an enlarged liver; lactic acidosis; and/or a specific group of features known as Leigh syndrome may also be present. COX deficiency is caused by genetic changes in any of at least 14 genes; the inheritance pattern depends on the gene involved.
What are the alternative names for Cytochrome C Oxidase Deficiency?
  • Cytochrome c oxidase deficiency
  • COX deficiency
  • Complex 4 mitochondrial respiratory chain deficiency
  • Complex IV deficiency
  • Deficiency of mitochondrial respiratory chain complex4
  • Mitochondrial complex IV deficiency
Who are the top Cytochrome C Oxidase Deficiency Local Doctors?
Distinguished in Cytochrome C Oxidase Deficiency
Dr. Oliver B. Diaz
Cardiology
Distinguished in Cytochrome C Oxidase Deficiency
Dr. Oliver B. Diaz
Cardiology
46 Goodwin St, 
Bristol, CT 
 (0.7 mi)
860-589-5593
Languages Spoken:
English
See accepted insurances

Oliver Diaz is a Cardiologist in Bristol, Connecticut. Dr. Diaz and is rated as a Distinguished provider by MediFind in the treatment of Cytochrome C Oxidase Deficiency. His top areas of expertise are Type B Insulin Resistance Syndrome, Abdominal Obesity Metabolic Syndrome, Cytochrome C Oxidase Deficiency, and Mitochondrial Complex V Deficiency.

Distinguished in Cytochrome C Oxidase Deficiency
Dr. Ralph Prezioso
Cardiology
Distinguished in Cytochrome C Oxidase Deficiency
Dr. Ralph Prezioso
Cardiology
70 Meriden Ave, 
Southington, CT 
 (6.5 mi)
860-628-6696
Languages Spoken:
English

Ralph Prezioso is a Cardiologist in Southington, Connecticut. Dr. Prezioso and is rated as a Distinguished provider by MediFind in the treatment of Cytochrome C Oxidase Deficiency. His top areas of expertise are Abdominal Obesity Metabolic Syndrome, Type B Insulin Resistance Syndrome, Mitochondrial Complex V Deficiency, and Cytochrome C Oxidase Deficiency.

 
 
 
 
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Experienced in Cytochrome C Oxidase Deficiency
Dr. Michael O. Richards
Internal Medicine
Experienced in Cytochrome C Oxidase Deficiency
Dr. Michael O. Richards
Internal Medicine
41 Brewster Rd, 
Bristol, CT 
 (0.7 mi)
860-585-3000
Languages Spoken:
English
See accepted insurances

Michael Richards is an Internal Medicine provider in Bristol, Connecticut. Dr. Richards and is rated as an Experienced provider by MediFind in the treatment of Cytochrome C Oxidase Deficiency. His top areas of expertise are Cytochrome C Oxidase Deficiency, Mitochondrial Complex V Deficiency, Type B Insulin Resistance Syndrome, and Abdominal Obesity Metabolic Syndrome.

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