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Isolated complex III deficiency
Disease definition
Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).
ORPHA:1460
Classification level: Disorder- Synonym(s):
- Isolated CoQ-cytochrome C reductase deficiency
- Isolated coenzyme Q-cytochrome C reductase deficiency
- Isolated mitochondrial respiratory chain complex III deficiency
- Isolated ubiquinone-cytochrome C reductase deficiency
- Prevalence: -
- Inheritance: Autosomal recessive or Mitochondrial inheritance
- Age of onset: Neonatal, Infancy, Childhood
- ICD-10: G71.3
- OMIM: 124000 615157 615158 615159 615160 615453 615824 615838 616111 618775
- UMLS: -
- MeSH: -
- GARD: 8295
- MedDRA: -
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