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Methylmalonyl-CoA Mutase

An enzyme that catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA by transfer of the carbonyl group. It requires a cobamide coenzyme. A block in this enzymatic conversion leads to the metabolic disease, methylmalonic aciduria. EC 5.4.99.2.
Also Known As:
Isomerase, Methylmalonyl-CoA; Methylmalonyl CoA Isomerase; Methylmalonyl CoA Mutase; Mutase, Methylmalonyl-CoA; Methylmalonyl-CoA Isomerase; (R)-2-Methyl-3-oxopropanoyl-CoA CoA-carbonylmutase
Networked: 43 relevant articles (0 outcomes, 2 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Fowler, Brian: 3 articles (01/2014 - 08/2007)
2. Baumgartner, Matthias R: 2 articles (01/2014 - 08/2007)
3. Hörster, Friederike: 2 articles (01/2014 - 08/2007)
4. Chandler, Randy J: 2 articles (08/2013 - 01/2012)
5. Venditti, Charles P: 2 articles (08/2013 - 01/2012)
6. Berry, Gerard T: 2 articles (08/2013 - 08/2006)
7. Rabier, D: 2 articles (01/2010 - 09/2008)
8. Peruzzi, Licia: 1 article (07/2015)
9. Spada, Marco: 1 article (07/2015)
10. Porta, Francesco: 1 article (07/2015)

Related Diseases

1. Bovine Tuberculosis
2. Ischemia
3. Metabolic Diseases (Metabolic Disease)
4. Vitamin B 12 Deficiency (Vitamin B12 Deficiency)
5. Homocystinuria
08/01/1997 - "The consequent functional deficiencies of methylmalonyl-CoA mutase and methionine synthase produce both methylmalonic aciduria and homocystinuria. "
06/01/1999 - "Cobalamin C (cblC) defects result in decreased activity of both methylmalonyl-CoA mutase and N5-methyltetrahydrofolate:homocysteine methyltransferase (methionine synthase), with subsequent methylmalonic acid-uria and homocystinuria. "
03/01/2001 - "Combined methylmalonic aciduria and homocystinuria (MMA-HC) is caused by impaired hepatic conversion of dietary cobalamin to methylcobalamin and adenosylcobalamin, resulting in decreased activity of methylmalonyl-CoA mutase and methionine synthase. "
12/01/1984 - "As in control cells but unlike in those from patients with combined homocystinuria and methylmalonic aciduria (cobalamin C and cobalamin D), accumulated 57Co-labeled cobalamin was bound in appropriate amounts and proportion to intracellular binders which are known to be the two vitamin B12-dependent enzymes, methionine synthetase and methylmalonyl-CoA mutase. "
01/01/1989 - "Vitamin therapy for inborn errors of metabolism has been used in thiamin-responsive maple syrup urine disease, homocystinuria (pyridoxine-responsive cystathionine synthetase deficiency), disorders of vitamin B12 metabolism and defective methylmalonyl-CoA mutase, biotinidase and holocarboxylase synthetase deficiency, multiple acyl-CoA dehydrogenase deficiency, defective methylene tetrahydrofolate reductase and complex III deficiency (respiratory chain). "

Related Drugs and Biologics

1. Methylmalonic Acid
2. Vitamin B 12 (Cyanocobalamin)
3. 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase (Methyltetrahydrofolate Homocysteine Methyltransferase)
4. Methylmalonic acidemia
5. Enzymes
6. Vitamins
7. cobamamide (adenosylcobalamin)
8. Methylmalonyl-CoA Decarboxylase (Propionyl CoA Carboxylase)
9. mecobalamin (methylcobalamin)
10. Succinic Acid (Succinate)

Related Therapies and Procedures

1. Liver Transplantation