Cytochrome C Oxidase Deficiency
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Cytochrome C Oxidase Deficiency Overview

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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?
Elite in Cytochrome C Oxidase Deficiency
Christine Des Rosiers
Elite in Cytochrome C Oxidase Deficiency
Christine Des Rosiers
500 Bélanger Street, 
Montreal, QC, CA 

Christine Des Rosiers practices practicing medicine in Montreal, Canada. Ms. Des Rosiers is rated as an Elite expert by MediFind in the treatment of Cytochrome C Oxidase Deficiency. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Leigh Syndrome, Cytochrome C Oxidase Deficiency, Lactic Acidosis, and Dihydrolipoamide Dehydrogenase Deficiency.

Elite in Cytochrome C Oxidase Deficiency
Lise Coderre
Elite in Cytochrome C Oxidase Deficiency
Lise Coderre
Montreal, QC, CA 

Lise Coderre practices practicing medicine in Montreal, Canada. Ms. Coderre is rated as an Elite expert by MediFind in the treatment of Cytochrome C Oxidase Deficiency. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Leigh Syndrome, Cytochrome C Oxidase Deficiency, Lactic Acidosis, and Cystic Fibrosis.

 
 
 
 
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Elite in Cytochrome C Oxidase Deficiency
Carola Oldfors-Hedberg
Elite in Cytochrome C Oxidase Deficiency
Carola Oldfors-Hedberg
Goeteborg, O, SE 

Carola Oldfors-Hedberg practices practicing medicine in Goeteborg, Sweden. Ms. Oldfors-Hedberg is rated as an Elite expert by MediFind in the treatment of Cytochrome C Oxidase Deficiency. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Cytochrome C Oxidase Deficiency, Congenital Fiber-Type Disproportion, X-Linked Myotubular Myopathy, and Tubular Aggregate Myopathy.

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What are the latest Cytochrome C Oxidase 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