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GTR Home > Conditions/Phenotypes > Pyruvate dehydrogenase E1-beta deficiency

Pyruvate dehydrogenase E1-beta deficiency

Summary

Patients with pyruvate dehydrogenase E1-beta deficiency (PDHBD) present with typical clinical, biochemical and neuroradiological features: encephalopathy, hypotonia, respiratory difficulties, seizures, and lactic acidosis. Agenesis of the corpus callosum is often present. Patients with a severe clinical course die in infancy (summary by Quintana et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of pyruvate dehydrogenase deficiency, see 312170. [from OMIM]

Available tests

57 tests are in the database for this condition.

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Clinical tests (57 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: E1beta, PDHBD, PDHE1-B, PDHE1B, PHE1B, PDHB
    Summary: pyruvate dehydrogenase E1 subunit beta

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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