Question

What is Cox disease?

Answer 1

Cox:

1. Cox stands for Cytochrome C Oxidase and is an enzyme in the mitochondrial respiratory chain reaction.
2. Cox is responsible for the transfer of electrons to oxygen molecules from cytochrome C (reduced).

Cox disease:

1. It is an inherited metabolic disorder that occurs very rarely since it is autosomal recessive in nature.
2. It is caused due to a deficiency of cytochrome C oxidase involved in energy production in mitochondria.
3. The deficiency of cytochrome c oxidase affects skeletal muscles, the heart, the brain, and the liver.