has material basis in germline mutation in MMUT methylmalonic acidemia methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency https://www.malacards.org/card/methylmalonic_aciduria_due_to_methylmalonyl_coa_mutase_deficiency NANDO:1200794 methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-. vitamin B12-unresponsive methylmalonic aciduria MONDO:0009612 GARD:0003586 OMIM:251000 MEDGEN:344424 methylmalonyl-CoA mutase deficiency MESH:C565390 MCM deficiency UMLS:C1855114 NCIT:C148366 methylmalonyl-Coenzyme A mutase deficiency DOID:0060740 Orphanet:27 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency classic organic aciduria