" /> Combined oxidative phosphorylation deficiency 3 - CISMeF





Preferred Label : Combined oxidative phosphorylation deficiency 3;

Symbol : COXPD3;

CISMeF acronym : COXPD3;

Type : Phenotype, molecular basis known;

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;

Prefixed ID : #610505;

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03/05/2025


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