Volume 5, Number 1 (Vol.5 No.1 Oct 2016) | rbmb.net 2016, 5(1): 1-14 | Back to browse issues page



PMID: 28070528
PMCID: PMC5214677

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Keyfi F, Talebi S, Varasteh A. Methylmalonic Acidemia Diagnosis by Laboratory Methods. rbmb.net. 2016; 5 (1) :1-14
URL: http://rbmb.net/article-1-79-en.html

Pardis Clinical and Genetic Laboratory, Mashhad, Iran - Immunobiochemistry Lab, Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran - Varastegan Institute for Medical Center, Mashhad, Iran
Abstract:   (1738 Views)

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.

Full-Text [PDF 494 kb]   (560 Downloads)    
Subject: Biochemistry
Received: 2016/08/22 | Accepted: 2016/08/22 | Published: 2016/08/22

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