Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency
Human methylmalonyl-CoA epimerase (MCEE) catalyzes the interconversion of d-methylmalonyl-CoA and l-methylmalonyl-CoA in propionate catabolism. Autosomal recessive pathogenic variations in MCEE reportedly cause methylmalonic aciduria (MMAuria) in eleven patients. We investigated a cohort of 150 indi...
Main Authors: | , , , , , , , , , , , |
---|---|
Format: | Journal article |
Language: | English |
Published: |
Elsevier
2019
|