Methylmalonic acid (MMA)Human blood serumElectrochemicalVitamin B12 is very important for human metabolism and its deficiency can cause anemia and the production of large red blood cells. An increased concentration of methylmalonic acid (MMA) is detected much before the transformation of blood cells, ...
Uremia (UR) is caused by increased UR-related toxins in the bloodstream. We explored the mechanism of enterogenous toxin methylmalonic acid (MMA) in calcium-phosphorus metabolic disorder in UR rats via the Wnt/β-catenin pathway. The UR rat model was est
Methylmalonic acid AMI: Acute myocardial infarction I/R: Ischemia–reperfusion ROS: Reactive oxygen species H/R: Hypoxia/reoxygenation EF: Ejection fraction FS: Fractional shortening GPX4: Glutathione peroxidase 4 SLC7A11: Solute carrier family 7 member 11 Fer-1: Ferrostatin-1 RSL3:...
The condition is caused by mutations in the methylmalonyl-CoA mutase (MCM) gene or its cofactor, adenosylcobalamin (AdoCbl), leading to disruptions in the metabolic pathways of propionic acid precursor amino acids (valine, isoleucine, threonine, methionine), as well as propionate, odd-chain fatty...
If a repeat sample demonstrated a persistent increase both in the C3 level and the C3/C2 ratio, then further confirmatory tests, including urine organic acid and genetic analysis, were conducted. Individuals excluded from having the disease through repeated MS/MS tests as well as other ...
So too was that of mitochondrial glutamate dehydrogenase 1 (GLUD1), an enzyme involved in glutamate degradation for α-ketoglutarate synthesis (the precursor of succinyl-CoA in the tricarboxylic acid cycle, made in response to elevated ADP/ATP ratio or low levels of succinyl-CoA) [38]. Indeed...
1/.1 Methylmalonic acid and total homtxystcinc in plasma and serum havc previously hccn uscd as indicators of intraccllular cobalamin function in adults. To assess the usefulness o f quantitation of thcsc mct;iholitcs in the diagnosis o f tlict;lry cc)balamin ddicicncy in infants, they...
Cr: Creatinine; HCY: Homocysteine; MMA: Methylmalonic Acid Miscellaneous α: Alpha - the probability of rejecting the null hypothesis given that it is true; AD: Alzheimer’s Disease; C: Centigrade; CI: Confidence Interval; O: Degree; ID#: Participant Identification Number; L: Liter; μmol:...
of homocysteine (Hcy) into methionine. The other enzyme dependent on B12is methylmalonyl-CoA mutase, which catalyzes the conversion of methylmalonyl-CoA into succinyl-CoA. As a consequence of B12deficiency, these enzymatic reactions are impaired and Hcy and methylmalonic acid (MMA) accumulate [11]....
Methylmalonic acidemia (MMA; OMIM 251000, OMIM 251100, OMIM 251110, OMIM 277410, OMIM 277400) and propionic acidemia (PA; OMIM 606054) are inborn errors of metabolism of the propionate pathway characterized by accumulation of methylmalonic acid and propionic acid, respectively, leading to acute prese...