Methylmalonic Acidemia Diagnosis by Laboratory Methods
سال انتشار: 1395
نوع سند: مقاله ژورنالی
زبان: انگلیسی
مشاهده: 187
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شناسه ملی سند علمی:
JR_RBMB-5-1_001
تاریخ نمایه سازی: 10 شهریور 1400
چکیده مقاله:
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.
کلیدواژه ها:
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
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.