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

Rare Disease

pyruvate dehydrogenase phosphatase deficiency

MONDO:0012120

Also known as:PDH phosphatase deficiencyPDHPDlactic acidemia with pyruvate dehydrogenase phosphatase deficiency

Overview

Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.

GeneticsAutosomal recessive · PDP1 (chr 8)

OnsetNEONATAL

ResearchLimited published research (3 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: Feeding difficulties, Low muscle tone (hypotonia), Global developmental delay, and Decreased activity of the pyruvate dehydrogenase complex and others. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Difficulty swallowing (dysphagia), Seizure, Gait ataxia

Genetic Landscape

PDP1 function has not been fully characterized.

Pyruvate dehydrogenase phosphatase deficiency is associated with mutations in the PDP1 gene on chromosome 8.

Diagnosis

Genetic testing for PDP1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present 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 phosphatase deficiency.

3 publications have been identified in PubMed for pyruvate dehydrogenase phosphatase deficiency. Research spans Review / Meta-Analysis (67%) and Basic Science / Preclinical (33%).

Recent Publications

Patel MS (2026). [PMID: 41045434](https://pubmed.ncbi.nlm.nih.gov/41045434/). *Int J Cancer*. [Review / Meta-Analysis]
Kumar V (2025). [PMID: 40491447](https://pubmed.ncbi.nlm.nih.gov/40491447/). *Front Physiol*. [Review / Meta-Analysis]
Kang T (2025). [PMID: 40857407](https://pubmed.ncbi.nlm.nih.gov/40857407/). *JCI Insight*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 4:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608782

Orphanet

European rare disease database

Orphanet:79246

GARD

Genetic and Rare Diseases Info Center

GARD:9888

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 phosphatase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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