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

XML Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

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 Sciences, Mashhad, Iran.
Abstract:   (10488 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 503 kb]   (3746 Downloads)    
Subject: Biochemistry
Received: 2015/11/22 | Accepted: 2016/01/20 | Published: 2016/10/30

Add your comments about this article : Your username or Email:
CAPTCHA

Send email to the article author


Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

© 2015 All Rights Reserved | Reports of Biochemistry and Molecular Biology

Designed & Developed by : Yektaweb