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tricarboxylic acid cycle, defect of - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tricarboxylic acid cycle, defect of

MONDO:0010151

Overview

GeneticsAutosomal recessive

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: Decreased activity of the pyruvate dehydrogenase complex, Nervous system problems (abnormality of the nervous system), and Persistent lactic acidosis.

Organ System	Phenotype Count	Example Features
Lab test results	1	Decreased activity of the pyruvate dehydrogenase complex

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 tricarboxylic acid cycle, defect of.

3 publications have been identified in PubMed for tricarboxylic acid cycle, defect of. Research spans Basic Science / Preclinical (100%).

Recent Publications

Gao Y (2025). [PMID: 40572321](https://pubmed.ncbi.nlm.nih.gov/40572321/). *Microorganisms*. [Basic Science / Preclinical]
Lewis EP (2024). [PMID: 39399478](https://pubmed.ncbi.nlm.nih.gov/39399478/). *FASEB bioAdvances*. [Basic Science / Preclinical]
Jonas E (2024). [PMID: 39315269](https://pubmed.ncbi.nlm.nih.gov/39315269/). *Research square*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:275370

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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tricarboxylic acid cycle, defect of

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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