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Pyruvate dehydrogenase E3-binding protein deficiency

Disease definition

Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

ORPHA:255182

Classification level: Subtype of disorder
  • Synonym(s):
    • 2-oxoglutarate complex deficiency
    • Branched chain alpha-ketoacid dehydrogenase complex deficiency
    • Diaphorase deficiency
    • Dihydrolipoyl dehydrogenase deficiency
    • Glycine cleavage system L protein deficiency
    • Lipoamide dehydrogenase deficiency
    • Pyruvate dehydrogenase complex component E3 deficiency
    • Pyruvate dehydrogenase protein X component deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E74.4
  • OMIM: 245349
  • UMLS: C1855553
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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Further information on this disease

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