MCEE, methylmalonyl-CoA epimerase, 84693

N. diseases: 12; N. variants: 3
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 		0.140 GeneticVariation disease BEFREE Autosomal recessive pathogenic variations in MCEE reportedly cause methylmalonic aciduria (MMAuria) in eleven patients. 30682498 2019
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.140 GeneticVariation disease BEFREE To our knowledge, this is the first report of an adult patient with <i>MCEE</i> mutations and MMA-uria, thus adding novel data to the possible phenotypical spectrum of MCE deficiency. 31146325 2019
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.140 GeneticVariation disease BEFREE A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. 16752391 2006
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.140 Biomarker disease BEFREE We conclude that the patient's MCEE defect was responsible for the mild methylmalonic aciduria, confirming a partial requirement for the enzymatic activity in humans. 16697227 2006
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.140 Biomarker disease HPO