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5.1.99.1: methylmalonyl-CoA epimerase

This is an abbreviated version!
For detailed information about methylmalonyl-CoA epimerase, go to the full flat file.

Word Map on EC 5.1.99.1

Reaction

(R)-methylmalonyl-CoA
=
(S)-methylmalonyl-CoA

Synonyms

DL-Methylmalonyl-CoA racemase, DL-Methylmalonyl-coenzyme A racemase, MCE, MCE-1, MCEE, Methylmalonyl coenzyme A racemase, methylmalonyl-CoA 2-epimerase, methylmalonyl-CoA 2-racemase, methylmalonyl-CoA epimerase, Methylmalonyl-CoA racemase, methylmalonyl-coenzyme A epimerase, mm-CoA epimerase, MMCE, Msed_0639, Racemase, methylmalonyl coenzyme A, TTE0360

ECTree

     5 Isomerases
         5.1 Racemases and epimerases
             5.1.99 Acting on other compounds
                5.1.99.1 methylmalonyl-CoA epimerase

Disease

Disease on EC 5.1.99.1 - methylmalonyl-CoA epimerase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Metabolism, Inborn Errors
A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy.
methylmalonyl-coa epimerase deficiency
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.
Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials.
Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.
Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.
Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the
Neoplasms
Antidepressant effects of TBE-31 and MCE-1, the novel Nrf2 activators, in an inflammation model of depression.
Propionic Acidemia
Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.