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新生儿查 propionic 和 methylmalonic 酸血和 homocystinuria 的结果

Anna T Reischl-Hajiabadi¹, Elena Schnabel¹, Florian Gleich¹

¹Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.

Journal of inherited metabolic disease

|April 2, 2024

概括

新生儿查改善了MTHFR和CBS缺陷的结果,以及一些MMA/cblC病例. 然而,由于严重的并发症,对酸血症和不响应的MMA的益处不太清楚.

科学领域:

生物化学生物化学
遗传学遗传学是一个
儿科儿科儿科

背景情况:

德国的新生儿查 (NBS) 目前检测到13种遗传代谢疾病 (IMD).
一项试点研究扩大了NBS,包括酸血症 (PA),甲基马龙酸血症 (MMA),转甲基化障碍 (例如,可巴胺[cbl] C,甲基酸盐还原酶[MTHFR]缺乏),氨酸β-合成酶 (CBS) 缺乏以及新生儿cbl缺乏.

研究的目的:

评估扩大NBS对各种IMD的长期健康益处.
评估多层算法在识别和管理这些条件中的有效性.

主要方法:

一项多中心观察性研究追踪了27名查IMD患者和42名新生儿cbl缺乏症患者,平均3.6年.
收集的数据包括代谢失补偿,死亡率和长期的神经症状.

主要成果:

17名IMD查患者 (63%) 经历了代谢失补偿,3名PA患者尽管早期检测和治疗,但死亡.
15名患者 (79%) 患有PA或MMA,所有患有cblC缺乏症的人都出现了永久的神经症状.
患有MTHFR,CBS和新生儿cbl缺乏症的个体表现出良好的临床结果.

结论:

扩大NBS和专业护理显著有利于患有MTHFR,CBS,新生儿cbl缺乏症和部分响应MMA/cblC缺乏症的患者.
对于PA和不响应的MMA,NBS的优势不那么明显,原因是缺血补偿,死亡率和长期并发症的高率.

关键词:

在MTHFR缺陷中.cblC 缺乏症是什么?甲基马龙酸尿尿症是什么新生儿查新生儿查新生儿维生素B12缺乏症酸 propionic 尿尿症酸 propionic 尿尿尿尿尿尿

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