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Pyruvate dehydrogenase deficiency

Disease definition

Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms).

ORPHA:765

  • Synonym(s):
    • PDH
    • PDHC
    • Pyruvate dehydrogenase complex deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or X-linked dominant or Not applicable 
  • Age of onset: Childhood, Infancy, Neonatal
  • ICD-10: E74.4
  • OMIM: 245348  245349  246900  312170  608782  614111
  • UMLS: C0034345  C2936911
  • MeSH: C536257  D015325
  • GARD: 7513
  • MedDRA: -

Detailed information

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Additional information

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