3-methylglutaconic aciduria type 7a (DOID:0081133)
Alliance: disease page
Alt IDs: OMIM:619835
Definition: A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13.