COX deficiency, fatal infant myopathy type (medical condition)

A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called enzyme cytochrome C oxidase (COX or Complex IV) which is needed in the process of energy production by body cells. The fatal infant type generally affects the hearty and kidneys as well as the muscles. See also Complex 4 mitochondrial respiratory chain deficiency, fatal infant myopathy type

Chemwatch
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