Orphanet: Pyruvate dehydrogenase E3 deficiency

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Pyruvate dehydrogenase E3 deficiency

Disease definition

Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.


Classification level: Subtype of disorder
  • Synonym(s):
    • DLD deficiency
    • Dihydrolipoamide dehydrogenase deficiency
    • E3-deficient maple syrup urine disease
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E74.4
  • OMIM: 246900
  • UMLS: -
  • MeSH: -
  • GARD: 3263
  • MedDRA: -

Detailed information

Article for general public


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