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?
Experienced in Cytochrome C Oxidase Deficiency
Dr. Michael J. Raguso-Failla
Family Medicine
Experienced in Cytochrome C Oxidase Deficiency
Dr. Michael J. Raguso-Failla
Family Medicine

Hackensack Meridian Health Medical Group - Primary Care PC

279 Mathistown Rd, 
Little Egg Harbor Twp, NJ 
 (7.9 mi)
609-296-1101
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Michael Raguso-Failla is a Family Medicine provider in Little Egg Harbor Twp, New Jersey. Dr. Raguso-Failla and is rated as an Experienced provider by MediFind in the treatment of Cytochrome C Oxidase Deficiency. His top areas of expertise are Hypertension, Glucocorticoid-Remediable Aldosteronism, Familial Hypertension, and Type 2 Diabetes (T2D).

Experienced in Cytochrome C Oxidase Deficiency
Dr. Dhiren K. Gandhi
Family Medicine
Experienced in Cytochrome C Oxidase Deficiency
Dr. Dhiren K. Gandhi
Family Medicine
240 Mathistown Rd, Unit 215, 
Little Egg Harbor Twp, NJ 
 (8.0 mi)
609-294-4232
Languages Spoken:
English, Hindi
See accepted insurances
Accepting New Patients
Offers Telehealth

Dhiren Gandhi is a Family Medicine provider in Little Egg Harbor Twp, New Jersey. Dr. Gandhi and is rated as an Experienced provider by MediFind in the treatment of Cytochrome C Oxidase Deficiency. His top areas of expertise are Urinary Tract Infection in Children, Lung Metastases, Thrombocytopenia, Colonoscopy, and Endoscopy. Dr. Gandhi is currently accepting new patients.

 
 
 
 
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Experienced in Cytochrome C Oxidase Deficiency
Dr. Walter P. Miller
Family Medicine
Experienced in Cytochrome C Oxidase Deficiency
Dr. Walter P. Miller
Family Medicine

Southern Ocean Primary Care Associates LLC

317 E Main St, 
Tuckerton, NJ 
 (10.3 mi)
609-296-1336
Experience:
47+ years
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Walter Miller is a Family Medicine provider in Tuckerton, New Jersey. Dr. Miller has been practicing medicine for over 47 years and is rated as an Experienced provider by MediFind in the treatment of Cytochrome C Oxidase Deficiency. His top areas of expertise are Muscle Invasive Bladder Cancer, Non-Muscle Invasive Bladder Cancer, Chronic Kidney Disease, and Chronic Fatigue Syndrome. Dr. Miller is currently accepting new patients.

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