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pyruvate dehydrogenase E1-beta deficiency (PDHBD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pyruvate dehydrogenase E1-beta deficiency

MONDO:0013580

Also known as:PDHBDpyruvate dehydrogenase complex E1 component subunit beta deficiency

Overview

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

GeneticsAutosomal recessive · PDHB (chr 3)

OnsetNEONATAL

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Generalized hypotonia and Lactic acidosis; and common findings: Hyporeflexia and Agenesis of corpus callosum. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Hyporeflexia, Global developmental delay

Genetic Landscape

PDHB function has not been fully characterized.

Pyruvate dehydrogenase E1-beta deficiency is associated with mutations in the PDHB gene on chromosome 3.

Diagnosis

Genetic testing for PDHB is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 2 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for pyruvate dehydrogenase E1-beta deficiency.

5 publications have been identified in PubMed for pyruvate dehydrogenase E1-beta deficiency. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (40%), and Basic Science / Preclinical (20%).

Recent Publications

Yang L (2025). [PMID: 40182687](https://pubmed.ncbi.nlm.nih.gov/40182687/). *Front Physiol*. [Review / Meta-Analysis]
Li Y (2025). [PMID: 40050878](https://pubmed.ncbi.nlm.nih.gov/40050878/). *Ital J Pediatr*. [Case Report / Case Series]
Wang J (2024). [PMID: 39550366](https://pubmed.ncbi.nlm.nih.gov/39550366/). *Nat Commun*. [Basic Science / Preclinical]
Nguyen TTN (2024). [PMID: 39720099](https://pubmed.ncbi.nlm.nih.gov/39720099/). *Front Pediatr*. [Case Report / Case Series]
Qu J (2024). [PMID: 38904034](https://pubmed.ncbi.nlm.nih.gov/38904034/). *Front Endocrinol (Lausanne)*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 1:44 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614111

Orphanet

European rare disease database

Orphanet:255138

GARD

Genetic and Rare Diseases Info Center

GARD:17236

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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pyruvate dehydrogenase E1-beta deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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