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pyruvate dehydrogenase E1-alpha deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Respiratory failure, Metabolic acidosis, Intellectual disability, and Lactic acidosis and others; and very common findings: Low muscle tone (hypotonia). 36 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Dystonia, Seizure, Enlarged brain ventricles (ventriculomegaly)
Muscles	3	Low muscle tone (hypotonia), Generalized hypotonia, Brain shrinkage (cerebral atrophy)
Lab test results	3	Increased circulating pyruvate concentration, Increased circulating lactate concentration, Decreased activity of the pyruvate dehydrogenase complex
Head and neck	2	Microcephaly, Abnormal facial shape
Eyes	2	Abnormal eye movements (abnormality of eye movement), Ptosis
Lungs and breathing	1	Respiratory failure
Metabolism	1	Metabolic acidosis

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.

5 clinical trials registered, 4 recruiting. Interventions under study include drug therapy, other interventions, and gene therapy. Pipeline includes 1 PHASE3, 1 PHASE2, 1 PHASE1. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT03056794](https://clinicaltrials.gov/study/NCT03056794)	Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies	—	University of Pittsburgh	RECRUITING
[NCT02616484](https://clinicaltrials.gov/study/NCT02616484)	Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:	PHASE3	Saol Therapeutics Inc	ACTIVE_NOT_RECRUITING
[NCT06887777](https://clinicaltrials.gov/study/NCT06887777)	Efficacy and Safety of the Treatment of Pyruvate Dehydrogenase Deficiency Patients With Glycerol Phenylbutyrate (RAVICTI)	PHASE2	Assistance Publique - Hôpitaux de Paris	RECRUITING
[NCT06340685](https://clinicaltrials.gov/study/NCT06340685)	Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency	PHASE1	Jirair Krikor Bedoyan	RECRUITING
[NCT01793168](https://clinicaltrials.gov/study/NCT01793168)	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford	—	Sanford Health	RECRUITING

4 publications have been identified in PubMed for pyruvate dehydrogenase E1-alpha deficiency. Research spans Other (25%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

Ma H (2026). [PMID: 41780638](https://pubmed.ncbi.nlm.nih.gov/41780638/). *Mol Metab*. [Basic Science / Preclinical]
Guo Y (2025). [PMID: 40121184](https://pubmed.ncbi.nlm.nih.gov/40121184/). *FEMS Yeast Res*. [Review / Meta-Analysis]
Nguyen TTN (2024). [PMID: 39720099](https://pubmed.ncbi.nlm.nih.gov/39720099/). *Frontiers in pediatrics*. [Case Report / Case Series]
Laxmi V (2024). [PMID: 37787965](https://pubmed.ncbi.nlm.nih.gov/37787965/). *Indian J Pediatr*. [Other]

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pyruvate dehydrogenase E1-alpha deficiency

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pyruvate dehydrogenase E1-alpha 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