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GTR Home > Conditions/Phenotypes > Oxoglutaricaciduria

Oxoglutaricaciduria

Synonyms
2 alpha ketoglutarate dehydrogenase deficiency; Alpha KGD deficiency; Alpha-ketoglutarate dehydrogenase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Oxoglutarate dehydrogenase deficiency (OGDHD) is an autosomal recessive disorder associated with features of infantile- and pediatric-onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures (summary by Yap et al., 2021). [from OMIM]

Available tests

14 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (14 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AKGDH, E1k, E1o, HsOGDH, KGD1, OGDC, OGDH-E1, OGDH2, OGDHD, OGDH
    Summary: oxoglutarate dehydrogenase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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