Orphanet: Pyruvate dehydrogenase E1 beta deficiency
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Pyruvate dehydrogenase E1-beta deficiency

Disease definition

Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia.

ORPHA:255138

Classification level: Subtype of disorder
  • Synonym(s):
    • PDHBD
    • Pyruvate dehydrogenase complex E1 component subunit beta deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E74.4
  • OMIM: 614111
  • UMLS: C3279841
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

Prevalence is unknown. About 8 cases have been reported to date.

Clinical description

Patients presented with lactic acidosis and hypotonia at birth and were often from consanguineous families. There are no specific clinical features that distinguish this condition from pyruvate dehydrogenase E1-alpha deficiency.

Etiology

The disorder is caused by mutations in the gene coding for the E1-beta subunit of the PDH complex (PDHB; 3p21.1-p14.2).

Genetic counseling

The pattern of inheritance is autosomal recessive.

Expert reviewer(s):  Dr Garry BROWN - Last update: April 2012

  A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012) Português (2012) Polski (2012, pdf)

Detailed information

General public

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

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