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pyruvate dehydrogenase E3-binding protein deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Dystonia, Seizure, Ataxia
Muscles	3	Damage to the optic nerve (optic atrophy), Neonatal hypotonia, Poor gross motor coordination
Head and neck	2	High palate, Microcephaly
Eyes	2	Abnormal eye movements (abnormality of eye movement), Damage to the optic nerve (optic atrophy)
Lab test results	2	Increased circulating pyruvate concentration, Decreased activity of the pyruvate dehydrogenase complex
Metabolism	1	Metabolic acidosis
Pregnancy and birth	1	Neonatal hypotonia

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 E3-binding protein deficiency.

22 publications have been identified in PubMed for pyruvate dehydrogenase E3-binding protein deficiency. Research spans Basic Science / Preclinical (59%), Case Report / Case Series (23%), and Review / Meta-Analysis (9%).

Research Type	Count	% of Total
Laboratory research	13	59%
Patient case studies	5	23%
Research summaries	2	9%
Testing and diagnosis research	1	5%
Disease patterns and progression	1	5%

Recent Publications

Karim M (2026). [PMID: 41615804](https://pubmed.ncbi.nlm.nih.gov/41615804/). *Cell Rep*. [Basic Science / Preclinical]
Khalaf-Nazzal R (2026). [PMID: 41737903](https://pubmed.ncbi.nlm.nih.gov/41737903/). *JIMD Rep*. [Basic Science / Preclinical]
Zhang H (2025). [PMID: 41013826](https://pubmed.ncbi.nlm.nih.gov/41013826/). *Stem Cell Res Ther*. [Basic Science / Preclinical]
Tejedor JR (2025). [PMID: 39659154](https://pubmed.ncbi.nlm.nih.gov/39659154/). *J Inherit Metab Dis*. [Diagnostic / Biomarker]
Jafari M (2025). [PMID: 41379204](https://pubmed.ncbi.nlm.nih.gov/41379204/). *Mol Biol Rep*. [Basic Science / Preclinical]
Jiang H (2025). [PMID: 41018056](https://pubmed.ncbi.nlm.nih.gov/41018056/). *Front Pediatr*. [Case Report / Case Series]
Jiang Z (2025). [PMID: 39311688](https://pubmed.ncbi.nlm.nih.gov/39311688/). *Protein Cell*. [Basic Science / Preclinical]
Orthwein T (2025). [PMID: 40178271](https://pubmed.ncbi.nlm.nih.gov/40178271/). *mBio*. [Basic Science / Preclinical]
Hassan I (2025). [PMID: 41450887](https://pubmed.ncbi.nlm.nih.gov/41450887/). *Front Pediatr*. [Case Report / Case Series]
Gao G (2025). [PMID: 40011434](https://pubmed.ncbi.nlm.nih.gov/40011434/). *Nat Commun*. [Basic Science / Preclinical]

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pyruvate dehydrogenase E3-binding protein deficiency

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

pyruvate dehydrogenase E3-binding protein deficiency

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team