3-methylglutaconic aciduria type 1

Term ID

DOID:0110002

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. https://pubmed.ncbi.nlm.nih.gov/12434311/

References

• MESH:C562801
• OMIM:250950
• ORDO:67046

Ontology

Human Disease   ( DOID:0110002 )