x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Pyruvate dehydrogenase E2 deficiency

Disease definition

Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.

ORPHA:79244

  • 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

Professionals

Additional information

Further information on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.