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Disease on EC 5.4.99.2 - methylmalonyl-CoA mutase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acidosis
Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia.
Nitric oxide inhibits mammalian methylmalonyl-CoA mutase.
acyl-coa dehydrogenase deficiency
Vitamins and inherited human errors of metabolism.
Argininosuccinic Aciduria
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Ataxia
Effect of N2O treatment/vitamin B12 deficiency in pigs on tissue concentrations of odd-numbered, branched-chain fatty acids.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Vitamins and inherited human errors of metabolism.
Biotinidase Deficiency
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Brain Ischemia
Methylmalonyl-CoA mutase induction by cerebral ischemia and neurotoxicity of the mitochondrial toxin methylmalonic acid.
branched-chain-2-oxoacid decarboxylase deficiency
Demonstration of a new mammalian isoleucine catabolic pathway yielding an Rseries of metabolites.
Coma
Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia.
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
Demyelinating Diseases
Cobalamin deficiency and the pathogenesis of nervous system disease.
Genetic Diseases, Inborn
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
Recognition, isolation, and characterization of rat liver D-methylmalonyl coenzyme A hydrolase.
Glioma
Co-ordinate variations in methylmalonyl-CoA mutase and methionine synthase, and the cobalamin cofactors in human glioma cells during nitrous oxide exposure and the subsequent recovery phase.
Disruption of a regulatory system involving cobalamin distribution and function in a methionine-dependent human glioma cell line.
Fully automated assay for cobalamin-dependent methylmalonyl CoA mutase.
Holocarboxylase Synthetase Deficiency
Vitamins and inherited human errors of metabolism.
Homocystinuria
Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis.
Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).
Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings.
Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin.
Vitamins and inherited human errors of metabolism.
Hyperglycinemia, Nonketotic
Effect of valine on propionate metabolism in control and hyperglycinemic fibroblasts and in rat liver.
Hyperhomocysteinemia
The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.
Infections
Host expression of methylmalonyl-CoA mutase and tuberculosis: a missing link?
Kidney Failure, Chronic
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia.
Maple Syrup Urine Disease
Breastfeeding experience in inborn errors of metabolism other than phenylketonuria.
Vitamins and inherited human errors of metabolism.
medium-chain acyl-coa dehydrogenase deficiency
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Metabolic Diseases
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
Liver neoplasms in methylmalonic aciduria: An emerging complication.
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type.
Overexpression of human methylmalonyl CoA mutase in mice after in vivo gene transfer with asialoglycoprotein/polylysine/DNA complexes.
Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis.
[Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia].
Metabolism, Inborn Errors
A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy.
Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort.
Label-Free Quantitative Proteomics in a Methylmalonyl-CoA Mutase-Silenced Neuroblastoma Cell Line.
Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).
Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia.
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Vitamins and inherited human errors of metabolism.
methylmalonyl-coa mutase deficiency
Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes.
Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency.
Benign methylmalonic aciduria.
Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia.
Breastfeeding experience in inborn errors of metabolism other than phenylketonuria.
Correction of methylmalonyl-CoA mutase deficiency in Mut0 fibroblasts and constitution of gene expression in primary human hepatocytes by retroviral-mediated gene transfer.
Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
Deranged isoleucine metabolism during ketotic attacks in patients with methylmalonic acidaemia.
Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency.
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Liver neoplasms in methylmalonic aciduria: An emerging complication.
Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency.
Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle.
Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensation.
Methylmalonic/beta-hydroxy-n-valeric aciduria due to methylmalonyl-CoA mutase deficiency.
Methylmalonyl-CoA mutase deficiency associated with severe neonatal hyperammonemia: activity of urea cycle enzymes.
Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients.
Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.
Optic neuropathy in classical methylmalonic acidemia.
Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase.
Quantitation of methylmalonic acid in serum or plasma using isotope dilution-selected ion gas chromatography-mass spectrometry.
Severe hyperammonemia in a newborn infant with methylmalonyl-CoA mutase deficiency.
Towards metabolic sink therapy for mut methylmalonic acidaemia: correction of methylmalonyl-CoA mutase deficiency in T lymphocytes from a mut methylmalonic acidaemia child by retroviral-mediated gene transfer.
[Acute brainstem encephalitis and myelitis in a girl with isolated methylmalonic aciduria due to MUT gene defect].
[Analysis of the MUT gene mutations in patients with methylmalonic acidemia.]
[Diagnosis and treatment of methylmalonic aciduria: a case report]
[Isolated methylmalonyl-CoA mutase deficiency]
[Prognosis of congenital methylmalonic aciduria. Correlations between tolerance to proteins, response to vitamin B12 and enzymatic defect (author's transl)]
Mitochondrial Diseases
Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency.
Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency.
Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Vitamins and inherited human errors of metabolism.
Neural Tube Defects
Polymorphisms within the vitamin B12 dependent methylmalonyl-coA mutase are not risk factors for neural tube defects.
ornithine carbamoyltransferase deficiency
Breastfeeding experience in inborn errors of metabolism other than phenylketonuria.
Ornithine Carbamoyltransferase Deficiency Disease
Breastfeeding experience in inborn errors of metabolism other than phenylketonuria.
Phenylketonurias
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Propionic Acidemia
Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism.
Effect of valine on propionate metabolism in control and hyperglycinemic fibroblasts and in rat liver.
Multi-omics studies in cellular models of methylmalonic acidemia and propionic acidemia reveal dysregulation of serine metabolism.
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
[Diagnosis and follow up of 23 children with organic acidurias]
Renal Insufficiency
Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency.
Seizures
Creatine protects against the convulsive behavior and lactate production elicited by the intrastriatal injection of methylmalonate.
Effectiveness of creatine monohydrate on seizures and oxidative damage induced by methylmalonate.
Tuberculosis
Functional characterization of a vitamin B12-dependent methylmalonyl pathway in Mycobacterium tuberculosis: implications for propionate metabolism during growth on fatty acids.
Host expression of methylmalonyl-CoA mutase and tuberculosis: a missing link?
Progress in Oral Vaccination against Tuberculosis in Its Main Wildlife Reservoir in Iberia, the Eurasian Wild Boar.
Tuberculosis, Bovine
Influence of methylmalonyl-CoA mutase alleles on resistance to bovine tuberculosis in the European wild boar (Sus scrofa).
udp-galactopyranose mutase deficiency
Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase.
[Acute brainstem encephalitis and myelitis in a girl with isolated methylmalonic aciduria due to MUT gene defect].
[Prognosis of congenital methylmalonic aciduria. Correlations between tolerance to proteins, response to vitamin B12 and enzymatic defect (author's transl)]
Vitamin B 12 Deficiency
Effects of low concentrations of dietary cobalt on rumen succinate concentration in sheep.
Leukocyte methylmalonyl-CoA mutase. I. Vitamin B 12 deficiency.
Possible interrelationship between vitamins E and b12 in the disturbance in methylmalonate metabolism in vitamin E deficiency.
Quantitation of methylmalonic acid in serum or plasma using isotope dilution-selected ion gas chromatography-mass spectrometry.
Two newborns with nutritional vitamin B12 deficiency: Challenges in newborn screening for vitamin B12 deficiency.
Vitamin E Deficiency
Possible interrelationship between vitamins E and b12 in the disturbance in methylmalonate metabolism in vitamin E deficiency.