fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency
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Pathology
- hypertrophic cardiomyopathy
- lactic acidosis
- gliosis
- heart & skeletal muscle show reductions in cytochrome c oxidase (COX) activity,
- whereas liver & fibroblasts show mild COX deficiencies
Genetics
- associated with defects in SCO2 are the cause of fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency
Laboratory
- serum lactate, chem7, serum bicarbonate, anion gap consistent with lactic acidosis
- arterial blood gas consistent with metabolic acidosis