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Sulfide quinone oxidoreductase deficiency

Synonyms
SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY

Summary

Sulfide:quinone oxidoreductase-deficiency (SQORD) is characterized by a variable phenotype ranging from no clinical symptoms to episodes of encephalopathy and Leigh syndrome-like (see 256000) brain lesions, with acute symptoms triggered by infections and fasting. Other features may include lactic acidosis and decreased mitochondrial respiratory chain complex IV activity in tissues. Most affected individuals are asymptomatic. Patients with encephalopathy may recover or die in childhood (Friederich et al., 2020). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CGI-44, PRO1975, SQR, SQRDL, SQOR
    Summary: sulfide quinone oxidoreductase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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