" /> Mitochondrial complex III deficiency, nuclear type 5 - CISMeF





Preferred Label : Mitochondrial complex III deficiency, nuclear type 5;

Symbol : MC3DN5;

CISMeF acronym : MC3DN5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ubiquinol-cytochrome c reductase core protein II gene (UQCRC2, 191329.0001);

Laboratory abnormalities : Increased serum pyruvate; Hyperammonemia; Hypoglycemia; Decreased mitochondrial complex III levels and activity in fibroblasts; Increased serum lactate;

Prefixed ID : #615160;

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28/07/2025


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