Version: 8.0.0
Date: Tue Jan 28 2025
1 results
Disease Models: Mmut<tm1Pai>/Mmut<tm1Pai> [background:] involves: 129S1/Sv * C57BL/6 (Mmu)

methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Disease
Source: DOID:0060740
Definition: A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3.