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患有甲基马龙酸血症患者的临床和分子谱

Neerja Gupta¹, Mounika Endrakanti², Meenakshi Bhat³

¹Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, Room 840, 8th floor, Mother and Child Block, Ansari Nagar, New Delhi, 110029, India. neerja17@gmail.com.

Indian journal of pediatrics

|July 7, 2023

概括

甲基氨酸酸血 (MMA) 呈现出多样化的临床和分子谱. 最常见的是MMA cblC亚型,结果取决于分子缺陷,年龄和呈现严重程度.

科学领域:

生物化学生物化学
遗传学是一个遗传学.
代谢障碍代谢障碍代谢障碍

背景情况:

甲基马龙酸血症 (MMA) 是一组遗传性代谢疾病.
这些疾病是由甲基马龙酸代谢途径的缺陷引起的,导致甲基马龙酸的积累.
了解临床和分子变异对于诊断和管理至关重要.

研究的目的:

为了研究临床特征,生化异常,遗传变异和甲基马龙酸血症患者队列的结果.
确定MMA最常见的分子亚型及其相关的临床表现.
探索影响MMA患者结果的因素.

主要方法:

对30名被诊断患有MMA的患者的医疗记录进行了回顾性分析.
评估患者表型,生化数据和分子遗传检测结果.
评估治疗反应,特别是对维生素B12的治疗反应,以及患者的治疗结果,包括死亡率.

主要成果:

该研究包括来自27个家庭的30名患者,在41%的患者中发现血缘关系.
57%的患者发生了急性代谢失补偿. 最常见的分子亚型是MMA cblC (n=8),其次是MMA突变酶缺陷.
死亡率为30%,在孤立的MMA mut0和MMA cblB亚型中具有严重的结果.

结论:

MMA表现出广泛的谱,MMA cblC是最常见的亚型,其次是MMA突变酶缺陷.
患者的结果受到特定的分子缺陷,诊断时的年龄和疾病严重程度的显著影响.
早期检测和及时管理对于改善甲基马龙酸血症患者的治疗结果至关重要.

关键词:

在MMACHC中,它是MMACHC.人类性囊性尿症.甲基马洛尼酸血症甲基马洛尼酸血症甲基马洛尼尔-CoA 突变酶酶酶的作用新生儿查新生儿查下一代测序测序是什么

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