Detection of cobalamin deficiency using the urinary methylmalonic acid test by gas chromatography mass spectrometry.
نویسنده
چکیده
منابع مشابه
Cobalamin (vitamin B12) deficiency detection by urinary methylmalonic acid quantitation.
A study was made to assess the value of cobalamin deficiency detection through quantitation of urinary methylmalonic acid (MMA). Urinary MMA was measured in 1118 patients suffering from megaloblastic anemia, other anemias, elevated red cell mean corpuscular volume, or unexplained neurologic disorders. Patients without proven cobalamin deficiency had urinary MMA levels less than 20 micrograms/ml...
متن کاملExternal quality control of urinary methyl malonic acid quantification - announcement of a pilot study.
Methylmalonic acid (MMA) accumulates in the body in cases of cobalamin (vitamin B12) deficiency because of impaired metabolization of methylmalonyl CoA to succinyl CoA by methylmalonyl CoA-mutase, a cobalamin-dependent enzyme. Therefore, MMA represents a functional marker of cobalamin deficiency (1). It is widely accepted that MMA measurement is useful and necessary if serum cobalamin concentra...
متن کاملMethylmalonic Acidemia Diagnosis by Laboratory Methods
Methylmalonic acidemia (MMA) is usually caused by a deficiency of the enzyme methylmalonyl-CoA mutase (MCM), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, cblC, cblF, cblD, and cblX), or deficiency of the enzyme methylmalonyl-CoA epimerase. A comprehensive diagnostic approach involves investigations of metabolites with tandem mass spectrometry, organic ...
متن کاملMutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants
Methylmalonic aciduria (MMA) is an autosomal recessive disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. It is an inborn error of organic acid metabolism which commonly results from a defect in the gene encoding the methylmalonyl-CoA mutase (MCM) apoenzyme. Here we report the results of mutation study of exon 2 of the methylmalonyl CoA mutase (MUT) gene, coding MCM residue...
متن کاملDevelopment and Validation of a GC-FID Method for Diagnosis of Methylmalonic Acidemia
Background: Urinary organic acids are water-soluble intermediates and end products of the metabolism of amino acids, carbohydrates, lipids, and a number of other metabolic processes. In the hereditary diseases known as organic acidurias, an enzyme or co-factor defect in a metabolic pathway leads to the accumulation and increased excretion of one or more of these acidic metabolites. Gas chromato...
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ورودعنوان ژورنال:
- Journal of clinical pathology
دوره 46 4 شماره
صفحات -
تاریخ انتشار 1993