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GTR Home > Conditions/Phenotypes > Mitochondrial complex 2 deficiency, nuclear type 3

Mitochondrial complex 2 deficiency, nuclear type 3

Synonyms
MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3

Summary

Mitochondrial complex II deficiency nuclear type 3 (MC2DN3) is an autosomal recessive multisystemic metabolic disorder with a highly variable phenotype. Some patients may have an encephalomyopathic picture with episodic developmental regression, loss of motor skills, hypotonia, ataxia, dystonia, and seizures or myoclonus. Other patients present in infancy with hypertrophic cardiomyopathy, which may be fatal. Laboratory studies show increased serum lactate and mitochondrial complex II deficiency in muscle and fibroblasts (summary by Jackson et al., 2014 and Alston et al., 2015). For a discussion of genetic heterogeneity of MC2DN, see MC2DN1 (252011). [from OMIM]

Available tests

11 tests are in the database for this condition.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CBT1, CII-4, CWS3, MC2DN3, PGL, PGL1, PPGL1, QPs3, SDH4, cybS, SDHD
    Summary: succinate dehydrogenase complex subunit D

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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