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Isolated succinate-CoQ reductase deficiency

Disease definition

A rare, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype. The severe, multisystemic disease involves brain, heart, muscles, liver, kidneys, and eyes and results in death in infancy. Mildly affected individuals have only isolated cardiac or muscle involvement in the adulthood. Histochemical and biochemical analysis reveals a global reduction of succinate dehydrogenase activity.

ORPHA:3208

Classification level: Disorder
  • Synonym(s):
    • Isolated mitochondrial respiratory chain complex II deficiency
    • Isolated succinate dehydrogenase deficiency
    • Isolated succinate-coenzyme Q reductase deficiency
    • Isolated succinate-ubiquinone reductase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: G71.3
  • ICD-11: 5C53.2Y
  • OMIM: 252011  619166  619167  619224
  • UMLS: C1855008
  • MeSH: -
  • GARD: 5053
  • MedDRA: -

  A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

Additional information

Further information on this disease

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Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.