通过实验室方法诊断甲基丙二酸血症。
Methylmalonic Acidemia Diagnosis by Laboratory Methods.
作者信息
Keyfi Fatemeh, Talebi Saeed, Varasteh Abdol-Reza
机构信息
Immunobiochemistry Lab, Immunology Research Center, School of medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Pardis Clinical and Genetic Laboratory, Mashhad, Iran.
Department of Medical Genetics, Faculty of Medicine, Tehran University of medical sciences, Tehran, Iran.
出版信息
Rep Biochem Mol Biol. 2016 Oct;5(1):1-14.
Abstract
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.
摘要
甲基丙二酸血症（MMA）通常由以下原因引起：甲基丙二酰辅酶A变位酶（MCM）缺乏、其辅因子腺苷钴胺素（cblA、cblB、cblC、cblF、cblD和cblX）的转运或合成缺陷，或甲基丙二酰辅酶A差向异构酶缺乏。全面的诊断方法包括用串联质谱法研究代谢物、用气相色谱法进行有机酸分析、用成纤维细胞培养进行酶学研究，最后进行突变分析。通过生化技术和酶学测定，可以实现对孤立性MMA患者进行可靠的突变分析特征描述。对这些患者进行可靠分类对于正在进行的治疗、预后和产前诊断的前瞻性研究至关重要。本文综述了用于MMA患者特征描述的诊断技术。
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