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Definition

An autosomal recessive multisystem disorder with variable manifestations. Some patients present in the neonatal period with encephalomyopathic features, whereas others present later in the first year of life with developmental regression. Clinical features include microcephaly, encephalopathy, hypertrophic cardiomyopathy, persistent lactic acidosis, respiratory distress, hypotonia and seizures. Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels.

Acronym

MC4DN6

Synonyms

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
CEMCOX2

Keywords

Primary mitochondrial disease

 
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