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Pyruvate dehydrogenase E1-beta deficiency
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:255138Classification level: Subtype of disorder
- 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: -
Prevalence is unknown. About 8 cases have been reported to date.
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.
The disorder is caused by mutations in the gene coding for the E1-beta subunit of the PDH complex (PDHB; 3p21.1-p14.2).
The pattern of inheritance is autosomal recessive.
A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012) Português (2012) Polski (2012, pdf)
- Article for general public
- Svenska (2014) - Socialstyrelsen
Disease review articles
- Clinical genetics review
- English (2021) - GeneReviews
: produced/endorsed by FSMR(s)
Further information on this disease
Patient-centred resources for this disease
Research activities 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.