Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

oxoglutaricaciduria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oxoglutaricaciduria

MONDO:0008759

Also known as:Alpha-ketoglutarate dehydrogenase deficiencyoxoglutarate dehydrogenase deficiency2 alpha ketoglutarate dehydrogenase deficiency

Overview

A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures.

GeneticsAutosomal recessive · OGDH (chr 7)

ResearchLimited published research (1 article)

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: Dystonia, Low muscle tone (hypotonia), and Increased circulating lactate concentration; and very common findings: Abnormality of Krebs cycle metabolism, Ataxia, Global developmental delay, and Hypertonia and others. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Bilateral tonic-clonic seizure, Delayed speech and language development, Dystonia

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

OGDH encodes oxoglutarate dehydrogenase (1,023 aa). 2-oxoglutarate dehydrogenase (E1o) component of the 2-oxoglutarate dehydrogenase complex (OGDHC). Highest expression in Muscle Skeletal (222.2 TPM) and Heart Left Ventricle (201.4 TPM).

Oxoglutaricaciduria is associated with mutations in the OGDH gene on chromosome 7.

The OGDH protein participates in Protein lipoylation pathway.

OGDH is classified as a druggable target with score 3.3.

Diagnosis

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

Prognosis

Phenotype severity distribution: 3 always present features, 7 very common features, 14 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 oxoglutaricaciduria.

1 publication has been identified in PubMed for oxoglutaricaciduria. Research spans Case Report / Case Series (100%).

Recent Publications

Elleuch A (2026). [PMID: 41843386](https://pubmed.ncbi.nlm.nih.gov/41843386/). *Indian journal of pediatrics*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:203740

Orphanet

European rare disease database

Orphanet:31

GARD

Genetic and Rare Diseases Info Center

GARD:617

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?

← Back to All Diseases

oxoglutaricaciduria

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

Questions for Your Care Team

Explore clinical features