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GTR Home > Conditions/Phenotypes > Glutaryl-CoA oxidase deficiency

Glutaryl-CoA oxidase deficiency

Synonyms
GA III; GLUTARIC ACIDURIA III; Glutaric acidemia type 3
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Glutaric aciduria III is characterized by an isolated accumulation of glutaric acid. It appears to be a 'non-disease' as it is found in healthy individuals and is associated with inconsistent symptoms in others (summary by Marlaire et al., 2014). [from OMIM]

Available tests

24 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (24 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C7orf10, DERP13, GA3, ORF19, SUGCT
    Summary: succinyl-CoA:glutarate-CoA transferase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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