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Pyruvate dehydrogenase E1-alpha deficiency

Disease definition

Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.

ORPHA:79243

  • Synonym(s):
    • PDHAD
    • Pyruvate decarboxylase deficiency
    • Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
  • Prevalence: Unknown
  • Inheritance: X-linked dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E74.4
  • OMIM: 312170
  • UMLS: C0034345  C1839413
  • MeSH: -
  • GARD: 4620
  • MedDRA: -

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