| Metadata | |
|---|---|
| ID | DOID:0112246 |
| Name | glutaric acidemia type 3 |
| 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
GA III [EXACT] GA3 [EXACT] glutaric aciduria 3 [EXACT] glutaric aciduria III [EXACT] glutaric aciduria type 3 [EXACT] glutaryl-CoA oxidase deficiency [EXACT] |
| Parent Relationships |
is_a peroxisomal disease |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |