Alternative titles and symbols : Encephalomyopathy, respiratory failure, and lactic acidosis; Concentric cardiomyopathy, hypotonia, and lactic acidosis;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the mitochondrial Ts translation elongation factor gene (TSFM,
604723.0001);
Laboratory abnormalities : Increased serum lactate; Increased serum creatine kinase; Increased serum ketones; Increased serum ammonia; Decreased activity of mitochondrial respiratory complexes I, III, and IV;