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Definition

An autosomal recessive, severe mitochondrial disorder characterized by hypotonia, global developmental delay, hypertrophic cardiomyopathy, lactic acidosis, gliosis, and neuronal loss in basal ganglia, brainstem and spinal cord. Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure.

Acronym

MC4DN2

Synonyms

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
CEMCOX1
Cytochrome c oxidase deficiency with fatal infantile cardioencephalomyopathy

Keywords

Primary mitochondrial disease

 
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