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glutaric acidemia type 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

glutaric acidemia type 3

MONDO:0009283

Also known as:SUGCT glutaric aciduria (disease)glutaric aciduria (disease) caused by mutation in SUGCTglutaric aciduria type 3

Overview

Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.

GeneticsAutosomal recessive · SUGCT (chr 7)

ResearchLimited published research (7 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: Glutaric aciduria; and sometimes findings: Hyperthyroidism and Goiter. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	2	Diarrhea, Vomiting
Growth and development

Genetic Landscape

SUGCT function has not been fully characterized.

Glutaric acidemia type 3 has been associated with mutations in the SUGCT gene on chromosome 7.

Diagnosis

Genetic testing for SUGCT is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for glutaric acidemia type 3 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 glutaric acidemia type 3.

7 publications have been identified in PubMed for glutaric acidemia type 3. Research spans Basic Science / Preclinical (43%), Case Report / Case Series (29%), and Diagnostic / Biomarker (14%).

Recent Publications

Huang XW (2026). [PMID: 41452423](https://pubmed.ncbi.nlm.nih.gov/41452423/). *World J Pediatr*. [Review / Meta-Analysis]
Richert AC (2025). [PMID: 41196119](https://pubmed.ncbi.nlm.nih.gov/41196119/). *FASEB J*. [Basic Science / Preclinical]
Richert AC (2025). [PMID: 39990440](https://pubmed.ncbi.nlm.nih.gov/39990440/). *bioRxiv*. [Basic Science / Preclinical]
Huggins E (2024). [PMID: 39101156](https://pubmed.ncbi.nlm.nih.gov/39101156/). *Molecular genetics and metabolism reports*. [Case Report / Case Series]
Chen Y (2024). [PMID: 39185018](https://pubmed.ncbi.nlm.nih.gov/39185018/). *Mol Genet Metab Rep*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 1:04 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:231690

Orphanet

European rare disease database

Orphanet:35706

GARD

Genetic and Rare Diseases Info Center

GARD:12469

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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glutaric acidemia type 3

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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