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GTR Home > Conditions/Phenotypes > Mitochondrial complex II deficiency, nuclear type 1

Mitochondrial complex II deficiency, nuclear type 1

Synonyms
Complex 2 mitochondrial respiratory chain deficiency; Mitochondrial Respiratory Chain Complex II Deficiency; Mitochondrial Respiratory Chain Complex II Deficiency, SDHA-Related; Mitochondrial Respiratory Chain Complex II Deficiency, SDHAF1-Related; Mitochondrial complex II deficiency; Succinate CoQ reductase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Mitochondrial complex II deficiency is an autosomal recessive multisystemic metabolic disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, and muscle with onset in infancy, whereas others have only isolated cardiac or muscle involvement. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013). Complex II, also known as succinate dehydrogenase, is part of the mitochondrial respiratory chain. Genetic Heterogeneity of Mitochondrial Complex II Deficiency See MC2DN2 (619166), caused by mutation in the SDHAF1 gene (612848) on chromosome 19q13; MC2DN3 (619167), caused by mutation in the SDHD gene (602690) on chromosome 11q23; and MC2DN4 (619224), caused by mutation in the SDHB gene (185470) on chromosome 1p36. Fullerton et al. (2020) reviewed the genetic basis of isolated mitochondrial complex II deficiency. [from OMIM]

Available tests

105 tests are in the database for this condition.

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Clinical tests (105 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMD1GG, FP, MC2DN1, NDAXOA, PGL5, PPGL5, SDH1, SDH2, SDHF, SDHA
    Summary: succinate dehydrogenase complex flavoprotein subunit A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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