methylmalonic acid


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methylmalonic acid

 [meth″il-mah-lon´ik]
a carboxylic acid that is a structural isomer of succinic acid; occurring in excess in the blood and other body fluids in methylmalonicacidemia.

meth·yl·ma·lon·ic ac·id

(meth'il-mă-lon'ik as'id),
2-Methylpropanedioic acid, an important intermediate in fatty acid metabolism; seen in elevated levels in cases of vitamin B12 deficiency. Note that methylmalonate is not methyl malonate, which is the dimethyl ester of malonate.
Synonym(s): isosuccinic acid

methylmalonic acid

/meth·yl·ma·lon·ic ac·id/ (-mah-lon´ik) a carboxylic acid intermediate in fatty acid metabolism.

methylmalonic acid

A dicarboxylic acid intermediate in fatty acid metabolism, and a C-methylated derivative of malonate, which is increased in vitamin B12 and/or folate deficiency.

Ref range
• Serum, MA, 80–300 nmol/L; homocysteine, 8–20 µmol/L.
• Urine, MA < 3.6 mmol/mol creatinine.

Specimen
Serum, random urine.
 
Method
GC/MS, HPLC

methylmalonic acid

Isosuccinic acid An intermediate in fatty acid metabolism, which is ↑ in vitamin B12 and/or folate deficiency

methylmalonic acid

a normal ruminant metabolite detoxified in animals receiving a diet adequate in cobalt. A high content in the urine suggests nutritional deficiency.
References in periodicals archive ?
Blood was collected at baseline for measurement of plasma vitamin B(12), transcobalamin (TC), holotranscobalamin (holoTC), methylmalonic acid (MMA), total homocysteine (tHcy), and serum folate.
12] levels are abnormal, further metabolic testing with serum or urine determination of homocysteine and methylmalonic acid levels may be necessary.
If it's at or below the lower end of the normal range (less than 300 pg/ml), a blood test for methylmalonic acid and homocysteine can nail the diagnosis of a B-12 deficiency.
The license does not relieve Beckman Coulter customers for royalties on past or future assays for methylmalonic acid, for which CTT requires a separate license to perform such assays.
Folate (5-methyltetrahydrofolate), riboflavin, flavin mononucleotide (FMN), [7] FAD, pyridoxal 5'-phosphate (PLP), pyridoxal (PL), pyridoxic acid, free choline, betaine, dimethylglycine, creatinine, methionine sulfoxide, arginine, asymmetric dimethylarginine (ADMA), symmetric dimethylarginine (SDMA), tryptophan, kynurenine, kynurenic acid, anthranilic acid, 3-hydroxykynurenine, xanthurenic acid, 3-hydroxyanthranilic acid, and formiminoglutamic acid, were determined by liquid chromatography--tandem mass spectrometry (14-17), and methylmalonic acid, total homocysteine, total cysteine, methionine, serine, glycine, cystathionine, and sarcosine by gas chromatography-tandem mass spectrometry (15, 18).
Clinicians may wish to reevaluate the importance of lower-than-optimal serum vitamin B12 levels, pursue additional testing such as urinary methylmalonic acid and consider the potential benefits of vitamin B12 treatment.
Current state-of-the-art testing uses serum cobalamin levels as a screening test and serum or urine homocysteine and methylmalonic acid determinations as confirmatory tests.
12] concentration was in the upper part of the reference interval, and the concentrations of cobalamin pathway metabolites homocysteine and methylmalonic acid were within reference intervals.
Research using more accurate markers than serum cyanocobalamin such as methylmalonic acid, holotranscobalamine II, homocysteine, or neutrophilic segmentation index may be more definitive and should be pursued.
Serum methylmalonic acid and total homocysteine accumulate when intracellular Cbl deficiency is present.
Organic acid testing revealed a massive excretion of methylmalonic acid, indicating that the child had methylmalonic aciduria, a severe genetic disorder.