MMUT, methylmalonyl-CoA mutase, 4594

N. diseases: 147; N. variants: 177
Disease: Methylmalonic aciduria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 GeneticVariation disease 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: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 GeneticVariation disease BEFREE Mutations in CblA and MCM cause hereditary methylmalonic aciduria. 31056463 2019
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 Biomarker disease 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: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 GeneticVariation disease 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: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 GeneticVariation disease 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: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 GeneticVariation disease BEFREE Methylmalonic aciduria (MMA) is an inborn error of metabolism resulting from genetic defects in methylmalonyl-CoA mutase (MCM). 26449400 2016
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 Biomarker disease 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: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 GeneticVariation disease 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: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 GeneticVariation disease BEFREE The mutation R403stop was found in an individual with mut(0) methylmalonic aciduria (MMA) which resulted from a single base change of C→T in exon 6 of the methylmalonyl-CoA mutase gene (producing a TGA stop codon). 23024777 2012
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 Biomarker disease BEFREE Methylmalonic aciduria (MMA) is a disorder of organic acid metabolism resulting from a functional defect of methylmalonyl-CoA mutase (MCM). 22792386 2012
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 GeneticVariation disease BEFREE Failure to assemble holo-MCM leads to methylmalonic aciduria. 21604717 2011
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 AlteredExpression disease BEFREE Cisplatin, zidovudine and adefovir were found to increase the levels of MCM mRNA and EGFP expression, providing support for the possible efficacy of these pharmacological compounds in treating methylmalonic aciduria. 19199343 2009
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 GeneticVariation disease BEFREE A stop codon defect in methylmalonyl-CoA mutase (resulting in a truncated unstable protein) accounts for up to 14% of mutations identified as causes of Methylmalonic aciduria. 19427250 2009
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 Biomarker disease BEFREE Methylmalonic aciduria is known to result from defects in the enzyme methylmalonyl CoA mutase (MCM) (mut complementation group) and from defects in the synthesis of the MCM cofactor adenosylcobalamin (cblA, cblB, cblC, cblD, and cblF groups). 17823972 2007
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 GeneticVariation disease BEFREE Genetic and biochemical prenatal diagnosis was performed at 11 weeks of gestation in a family with a proband affected by mut methylmalonic aciduria (MMA) and homozygotes for the MUT gene c.643G>A (p.Gly215Ser) mutation. 16451139 2006
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 Biomarker disease CTD_human Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis. 16823967 2006
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 AlteredExpression disease BEFREE Deficient MCM activity results in methylmalonic aciduria and a susceptibility to life-threatening acidotic crises. 16410054 2006
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 AlteredExpression disease BEFREE ATP:cob(I)alamin adenosyltransferase (MMAB protein; methylmalonic aciduria type B) is an enzyme of vitamin B(12) metabolism that converts reduced cob(I)alamin to the adenosylcobalamin co-factor required for the functional activity of methylmalonyl-CoA mutase. 16439175 2006
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 GeneticVariation disease BEFREE Mutase-deficient (MUT) methylmalonic aciduria (MMA) is an autosomal recessive inborn error of organic acid metabolism, resulting from a functional defect in the nuclear encoded mitochondrial enzyme methylmalonyl-CoA mutase (MCM) (EC.5.4.99.2). 12402345 2002
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 Biomarker disease BEFREE Methylmalonic aciduria (MMA) is an autosomal-recessive disorder caused by inadequate function of methylmalonyl-CoA mutase (MCM), a nuclear-encoded, mitochondrial enzyme that uses adenosylcobalamin as a cofactor. 10923046 2000
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 GeneticVariation disease BEFREE Methylmalonic aciduria (MMA) is an autosomal recessive inborn error of metabolism that results from functional defects in methylmalonyl CoA mutase (MCM), a nuclear-encoded, mitochondrial enzyme that uses the vitamin B12 derivative, adenosylcobalamin (AdoCbl) as a cofactor. 9554742 1998
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 Biomarker disease BEFREE The consequent functional deficiencies of methylmalonyl-CoA mutase and methionine synthase produce both methylmalonic aciduria and homocystinuria. 9266389 1997
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 GeneticVariation disease BEFREE Many of the mutations that cause methylmalonic aciduria in humans affect residues in the C-terminal region of the methylmalonyl-CoA mutase. 8643613 1996
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 GeneticVariation disease BEFREE Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria. 8880917 1996