Term Name: | 3-methylglutaconic aciduria type 1 |
---|---|
Synonyms: | 3-methylglutaconic aciduria type I, 3-methylglutaconyl-CoA hydratase deficiency, 3MG-CoA hydratase deficiency, MGA type I, MGA1 |
Definition: | A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22. |
Ontology: | Human Disease [DOID:0110002] ( DOID:0110002 ) |