Orphanet: Pyruvate dehydrogenase E2 deficiency

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Pyruvate dehydrogenase E2 deficiency

Disease definition

A very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.


Classification level: Subtype of disorder
  • Synonym(s):
    • Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency
    • Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency
    • Pyruvate dehydrogenase complex component E2 deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E74.4
  • OMIM: 245348
  • UMLS: C1855565
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Article for general public


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