نتایج جستجو برای: children methylmalonic acidemia
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Classically, methylmalonic acidemia (MMA) is characterized on imaging by abnormalities in the basal ganglia, specifically the globus pallidi, as well as occasional signs of delayed maturation. We report a case of MMA in which abnormal signal and diffusion restriction occurred in the subcortical white matter, sparing the classically involved globus pallidi, a situation that has not been previous...
Propionic acidemia (PA) and methylmalonic (MMA) are rare autosomal recessive disorders of propionyl-CoA (P-CoA) catabolism, caused by a deficiency in the enzymes P-CoA carboxylase methylmalonyl-CoA (M-CoA) mutase, respectively. PA MMA classified as intoxication-type inborn errors metabolism because intramitochondrial accumulation P-CoA, M-CoA, other metabolites results secondary inhibition mult...
In this study, we showed that cyanocobalamin dodecylamine, a ribose 5'-carbamate derivative of cyanocobalamin, was absorbed and accumulated to significant levels by Caenorhabditis elegans and was not further metabolized. The levels of methylmalonic acid and homocysteine, which serve as indicators of cobalamin deficiency, were significantly increased in C. elegans treated with the dodecylamine d...
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