A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance [PDF]
Annals of Clinical and Translational NeurologyMethylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to
Wei Zhao, Yingli Zhang, Hongliang Zheng
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Label-Free Quantitative Proteomics in a Methylmalonyl-CoA Mutase-Silenced Neuroblastoma Cell Line [PDF]
International Journal of Molecular Sciences, 2018 Methylmalonic acidemias (MMAs) are inborn errors of metabolism due to the deficient activity of methylmalonyl-CoA mutase (MUT). MUT catalyzes the formation of succinyl-CoA from methylmalonyl-CoA, produced from propionyl-CoA catabolism and derived from ...
Marianna Caterino +2 more
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Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress [PDF]
International Journal of Molecular Sciences, 2020 Methylmalonic acidemia (MMA) is a rare inborn error of metabolism caused by deficiency of the methylmalonyl-CoA mutase (MUT) enzyme. Downstream MUT deficiency, methylmalonic acid accumulates together with toxic metabolites from propionyl-CoA and other ...
Marianna Caterino +2 more
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Chemistry Journal of Moldova: General, Industrial and Ecological Chemistry, 2023 The in vivo experiments show that the adenosylcobalamin cofactor in glutamate mutase and methylmalonyl-CoA mutase processes lose its dimethylbenzimidazole axial ligand before starting the enzymatic processes.
Tudor Spataru
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Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes [PDF]
BMC Medical Genetics, 2007 Background Methylmalonic acidemia (MMA), a common organic aciduria, is caused by deficiency of the mitochondrial localized, 5'deoxyadenosylcobalamin dependent enzyme, methylmalonyl-CoA mutase (MUT).
Korson Mark +7 more
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Q-Flux: A method to assess hepatic mitochondrial succinate dehydrogenase, methylmalonyl-CoA mutase, and glutaminase fluxes in vivo [PDF]
Cell Metabolism, 2023 Rafael Calais Gaspar +2 more
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Understanding the off-loading mechanism of adenosylcobalamin by Cupriviadus metallidurans adenosyltransferase from C. metallidurans Isobutyryl-CoA Mutase Fused [PDF]
Structural DynamicsEnzymes are Nature's highly efficient catalysts, driving the metabolism of diverse substrates essential for sustaining life across all biological kingdoms.
Jayoh Amurao Hernandez
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Naturally occurring cobalamin (B12) analogs can function as cofactors for human methylmalonyl-CoA mutase. [PDF]
Biochimie, 2021 Cobalamin, commonly known as vitamin B12, is an essential micronutrient for humans because of its role as an enzyme cofactor. Cobalamin is one of over a dozen structurally related compounds - cobamides - that are found in certain foods and are produced ...
Sokolovskaya OM +7 more
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Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency. [PDF]
Nat Metab, 2023 Methylmalonic aciduria (MMA) is an inborn error of metabolism with multiple monogenic causes and a poorly understood pathogenesis, leading to the absence of effective causal treatments.
Forny P +26 more
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Vitamin B12 deficiency in an infant secondary to nutritional deficiency and an inadequate maternal diet. [PDF]
JPGN RepABSTRACT Vitamin B12 (cobalamin, Cbl) is an essential micronutrient for DNA synthesis and neurological development. Its deficiency in infants, although infrequent in developed countries, can cause megaloblastic anemia, psychomotor delay, and neurological damage that may become irreversible if not treated early.
Sala-Lluch S +5 more
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