cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 — Definition

Sitokrom c oksidaz eksikliği 3'e bağlı ölümcül infantil kardiyoensefalomiyopati; cytokrom c is a mitochondrial disease that occurs in the early childhood period, resulting from the genetic deficiency of the enzyme complex (COX) Heart muscle (cardiomiyopathy) and brain tissue (ensefalopathy) leads to serious damage, which manifests itself with respiratory failure, seizures and development retardation. The disease is the result of a critical reduction of energy production due to oxidative phosphorus disorder, usually deadly in the first months of life. Diagnosis, clinical findings are subject to lowness of COX activity in muscle biopsy and mutation in genetic tests (COX mounting factor genes).

The Turkish equivalent of "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3" is Sitokrom c oksidaz eksikliği 3'e bağlı ölümcül infantil kardiyoensefalomiyopati.

This term belongs to the Diseases category.