glutaric acidemia type 3

Term ID

DOID:0112246

Synonyms

• GA III
• GA3
• glutaric aciduria 3
• glutaric aciduria III
• glutaric aciduria type 3
• glutaryl-CoA oxidase deficiency

Definition

A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the SUGCT gene on chromosome 7p14.1. https://pubmed.ncbi.nlm.nih.gov/23893049/

References

• GARD:12469
• OMIM:231690
• ORDO:35706

Ontology

Human Disease   ( DOID:0112246 )