methylmalonic acid การใช้

• The level of methylmalonic acid is not elevated in folic acid deficiency.
• Methylmalonic acid is used as a more specific test of B 12 deficiency.
• Direct measurement of blood cobalamin remains the gold standard because the test for elevated methylmalonic acid is not specific enough.
• "' Methylmalonyl-CoA "'is the thioester consisting of coenzyme A linked to methylmalonic acid.
• A measurement of methylmalonic acid ( methylmalonate ) can provide an indirect method for partially differentiating Vitamin B and folate deficiencies.
• Serum homocysteine and methylmalonic acid levels are considered more reliable indicators of B 12 deficiency than the concentration of B 12 in blood.
• Additionally, organic acid analysis or quantitative determination of methylmalonic acid should help to exclude cobalamin ( vitamin B12 ) defects and vitamin B12 deficiency giving a differential diagnosis.
• Ammonia test, blood count, CT scan, MRI scan, electrolyte levels, genetic testing, methylmalonic acid blood test, and blood plasma amino acid tests all can be conducted to determine deficiency.
• The coenzyme A linked form of methylmalonic acid, methylmalonyl-CoA, is converted into succinyl-CoA by methylmalonyl-CoA mutase, in a reaction that requires vitamin B 12 as a cofactor.
• Because of the inability to properly break down amino acids completely, the byproduct of protein digestion, the compound methylmalonic acid, is found in a disproportionate concentration in the blood and urine of those afflicted.
• Routine monitoring of methylmalonic acid levels in urine is an option for people who may not be getting enough dietary B 12, as a rise in methylmalonic acid levels may be an early indication of deficiency.
• Routine monitoring of methylmalonic acid levels in urine is an option for people who may not be getting enough dietary B 12, as a rise in methylmalonic acid levels may be an early indication of deficiency.
• They may be increased before serum B 12 decreases and symptoms arise .-- > Methylmalonic acid ( MMA ) can be measured in both the blood and urine, whereas homocysteine is only measured in the blood.
• Vitamin B deficiency is but one among the conditions that can lead to dysfunction of this enzyme and a buildup of its substrate, methylmalonic acid, the elevated level of which can be detected in the urine and blood.
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• The metabolism of propionyl-CoA occurs in the mitochondria and requires Vitamin ( as adenosylcobalamin ) to make succinyl-CoA . When the conversion of propionyl-CoA to succinyl-CoA in the mitochondria fails due to Vitamin deficiency, elevated blood levels of methylmalonic acid ( MMA ) occur.
• MCS deficiency is a rare autosomal disorder that is widely diagnosed by neonatal screening and it is caused by mutations in MLYCD . It causes many symptoms : brain abnormalities, mild mental retardation, seizures, hypotonia, metabolic acidosis, vomiting, excretion of malonic and methylmalonic acids in urine, cardiomyopathies, and hypoglycemia.
• In brief : serum concentrations of metabolites of the folate, vitamin B-12 dependent one carbon metabolism pathway, specifically, homocysteine, cystathionine, 2-methylcitric acid, and methylmalonic acid were all significantly ( P < 0.001 ) higher ( 25-45 % ) in astronauts with ophthalmic changes than in those without such changes.
• Due to the loss of functionality of the enzyme, substrate levels build up in the CNS . The substrate, L-methylmalonyl-CoA hydrolyzes to form methylmalonate ( methylmalonic acid ), a neurotoxic dicarboxylic acid that, due to the poor dicarboxylic acid transport capacities of the blood-brain barrier, is effectively trapped within the CNS, leading to neurological debilitation.