glutaric acidemia type 3
Findings
No curated finding names glutaric acidemia type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009283), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Glutaric aciduriaHPOHP:0003150
- 6 of 6 reported patients
- Obligate (100% of cases)
- Abnormal circulating enzyme concentrationHPOHP:0011021
- Very frequent (80% to 99% of cases)
- Abnormal cerebral white matter morphologyHPOHP:0002500
- Occasional (5% to 29% of cases)
- Abnormal periventricular white matter morphologyHPOHP:0002518
- Occasional (5% to 29% of cases)
- Elevated circulating glutaric acid concentrationHPOHP:0003530
- Occasional (5% to 29% of cases)
- Failure to thriveHPOHP:0001508
- Occasional (5% to 29% of cases)
Show the remaining 2
- Specific learning disabilityHPOHP:0001328
- Occasional (5% to 29% of cases)
- Reduced peroxisomal glutaryl-CoA oxidase activityHPOHP:0034688
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SUGCTHGNC:16001
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Moderate · ClinGen · Autosomal recessive · 2024
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: glutaric acidemia type 3
- Also called
- glutaric aciduria (disease) caused by mutation in SUGCTglutaric aciduria type 3glutaryl-CoA oxidase deficiencySUGCT glutaric aciduria (disease)