Methylmalonyl-CoA epimerase involved in propionyl-CoA metabolism.
Methylmalonyl-CoA epimerase deficiency
MCEED
Autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the methylmalonyl-CoA epimerase family.
DL-methylmalonyl-CoA racemase, MCEE
Proteins
Immunology & Infectious Disease
18749Da
We found 2 products in 2 categories
ab236397