MMUT, methylmalonyl-CoA mutase, 4594

N. diseases: 147; N. variants: 177
Disease: Methylmalonic acidemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 GeneticVariation phenotype BEFREE This first phenotypic screening of a MMAuria mouse model confirms its relevance to human disease, reveals new alterations associated with MUT deficiency, and suggests a series of quantifiable readouts that can be used to evaluate potential treatment strategies. 31770620 2020
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 GeneticVariation phenotype BEFREE Methylmalonic acidemia (MMA), an inherited metabolic disease, results from genetic defects in methylmalonyl-CoA mutase or any of the proteins involved in adenosylcobalamin synthesis. 30712249 2019
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 GeneticVariation phenotype BEFREE Deficiency of propionyl-CoA carboxylase causes propionic acidemia and deficiencies of methylmalonyl-CoA mutase or its cofactor adenosylcobalamin cause methylmalonic acidemia. 31451751 2019
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 Biomarker phenotype BEFREE Methylmalonic acidemia (MMA) is a propionate pathway disorder caused by dysfunction of the mitochondrial enzyme methylmalonyl-CoA mutase (MMUT). 31648943 2019
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 Biomarker phenotype BEFREE Methylmalonic acidemia (MMA) is a typical type of organic acidemia caused by defects in methylmalonyl-CoA mutase or adenosyl-cobalamin synthesis. 30564975 2019
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 GeneticVariation phenotype BEFREE Mutations in CblA and MCM cause hereditary methylmalonic aciduria. 31056463 2019
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 Biomarker phenotype BEFREE The mut methylmalonic acidemia (MMA) caused by the deficiency of methylmalonyl-CoA mutase (MCM) activity, which results from defects in the MUT gene. 31466887 2019
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 Biomarker phenotype BEFREE Methylmalonic aciduria (MMA) is a disorder of organic acid metabolism resulting from a functional defect of the mitochondrial enzyme, methylmalonyl-CoA mutase (MCM). 29265583 2018
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 GeneticVariation phenotype BEFREE Methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut- enzymatic subtype, respectively); a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, or cblD-MMA); or deficiency of the enzyme methylmalonyl-CoA epimerase. 29996803 2018
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 GeneticVariation phenotype BEFREE Methylmalonic acidemia (MMA) is a common organic acidemia, mainly due to methylmalonyl-CoA mutase (MCM) or its coenzyme cobalamin (VitB12) metabolic disorders. 29068997 2017
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 GeneticVariation phenotype BEFREE Mutations in the MUT gene, which encodes the mitochondrial enzyme methylmalonyl-CoA mutase, are responsible for the mut form of methylmalonic aciduria (MMA). 27233228 2016
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 CausalMutation phenotype CLINVAR Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia. 26790480 2016
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 GeneticVariation phenotype BEFREE Methylmalonic aciduria (MMA) is an inborn error of metabolism resulting from genetic defects in methylmalonyl-CoA mutase (MCM). 26449400 2016
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 GeneticVariation phenotype BEFREE Isolated methylmalonic aciduria (MMA) is an autosomal-recessive disorder of propionate metabolism that is most commonly caused by mutations in the methylmalonyl-CoA mutase (MUT) gene (mut-type MMA). 27167370 2016
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 GeneticVariation phenotype CLINVAR Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations. 27233228 2016
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 CausalMutation phenotype CLINVAR Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia. 26615597 2016
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 CausalMutation phenotype CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 CausalMutation phenotype CLINVAR Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation. 25771389 2015
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 GeneticVariation phenotype BEFREE Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia. 26370686 2015
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 CausalMutation phenotype CLINVAR Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants. 25750861 2015
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 CausalMutation phenotype CLINVAR Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. 26454439 2015
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 GeneticVariation phenotype BEFREE Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. 26454439 2015
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 GeneticVariation phenotype BEFREE Almost 250 inherited mutations in the MUT gene are known to cause the devastating disorder methylmalonic aciduria; however, the mechanism of dysfunction of these mutations, more than half of which are missense changes, has not been thoroughly investigated. 25125334 2014
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 Biomarker phenotype BEFREE A mouse model of methylmalonic aciduria (Mut(-/-)MUT(h2)) was injected intravenously at 8 weeks of age with a lentiviral vector that expressed a codon-optimized human methylmalonyl coenzyme A mutase transgene, HIV-1SDmEF1αmurSigHutMCM. 24568291 2014
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 CausalMutation phenotype CLINVAR Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria. 25299208 2014