methylmalonic acidemia diagnosis by laboratory methods

نویسندگان

fatemeh keyfi immunobiochemistry lab, immunology research center, school of medicine, mashhad university of medical sciences, mashhad, iran - pardis clinical and genetic laboratory, mashhad, iran

saeed talebi department of medical genetics, faculty of medicine, tehran university of medical sciences, tehran, iran

abdol-reza varasteh tel: +98 51-38 44 20 16; fax: +98 51- 3845 22 36

چکیده

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 acid analysis with gas chromatography, enzymatic studies with fibroblast cell culture, and finally, mutation analysis. with biochemical techniques and enzymatic assay the reliable characterization of patients with isolated mma for mutation analysis can be achieved. reliable classification of these patients is essential for ongoing and prospective studies on treatments, outcomes, and prenatal diagnoses. this article reviews the diagnostic techniques used to characterize patients with mma.

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منابع مشابه

Methylmalonic 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 ...

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Methylmalonic 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 ...

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The authors provide an overview of the hereditary methylmalonic acidemias, a group of metabolic disorders with varied clinical presentations. This includes the most severe form of L-methylmalonyl-CoA mutase deficiency, termed mut(o) methylmalonic acidemia, which, together with the less severe deficiencies of L-methylmalonyl-CoA mutase, are the most common causes of methylmalonic acidemia. They ...

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Methylmalonic Acidemia.

Methylmalonic Acidemia (MMA) is an inborn error of metabolism that results in accumulation of methylmalonic acid in blood and increased excretion in urine. The effects of MMA vary from mild to life threatening and it usually presents in early infancy. Affected infants can have vomiting, dehydration, hypotonia, developmental delay and failure to thrive. The emergency treatment of the newborn wit...

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عنوان ژورنال:
reports of biochemistry and molecular biology

جلد ۵، شماره ۱، صفحات ۱-۱۴

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