MMUT, methylmalonyl-CoA mutase, 4594

N. diseases: 147; N. variants: 177
Disease: Mastitis-metritis-agalactia syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0276096
Disease: Mastitis-metritis-agalactia syndrome
Mastitis-metritis-agalactia syndrome 		0.100 GeneticVariation disease BEFREE Genetic defects in the methylmalonyl-CoA mutase (MCM) gene cause methylmalonic acidemia (MMA). 9929975 1999
CUI: C0276096
Disease: Mastitis-metritis-agalactia syndrome
Mastitis-metritis-agalactia syndrome 		0.100 AlteredExpression disease BEFREE The results show that propionate metabolism and methylmalonyl-CoA mutase (MCM) activity are intact in primary T cells, EBV-B cells, and CD34+ haematopoietic stem cell-derived granulocytes, whereas they are defective in those from a mut MMA child. 10518277 1999
CUI: C0276096
Disease: Mastitis-metritis-agalactia syndrome
Mastitis-metritis-agalactia syndrome 		0.100 GeneticVariation disease BEFREE Methylmalonic acidemia (MMA) can be caused by mutations in the gene coding for the methylmalonyl CoA mutase (MCM) apoenzyme or by mutations in genes required for provision of its adenosylcobalamin cofactor. 1968706 1990