孕产妇的可巴胺缺乏导致婴儿和发育回归
Nadav Weinstock1, Jacqueline Wood2, Emily DeBoy3
1Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, USA nweinst5@jh.edu.
BMJ case reports
|November 12, 2025
概括
孕产妇恶性贫血导致婴儿维生素B12缺乏,导致发育不良和发作. 及时补充维生素B12可以纠正代谢问题,改善神经症状.
科学领域:
- 儿科神经学 儿科神经学
- 代谢障碍 代谢障碍 代谢障碍
- 营养缺乏症 营养缺乏症
背景情况:
- 一个11个月大的男孩出现了发育不良,发作,发育衰退和口腔病变.
- 观察到代谢障碍,包括高尼尔卡尼丁,同型素和甲基马龙酸.
研究的目的:
- 为了调查婴儿中无法解释的神经和代谢症状的原因.
- 为了确定 cobalamin (维生素B12) 代谢在婴儿的状况中的作用.
主要方法:
- 进行了快速整体外体序列测序 (WES) 和代谢研究.
- 评估包括评估婴儿和母亲的维生素B12水平和自身抗体.
主要成果:
- 婴儿WES检测显示,可巴拉明代谢基因中没有致病变体.
- 母亲的维生素B12无法检测;她被诊断出患有恶性贫血.
- 在补充维生素B12后,婴儿显示出完全的代谢纠正和神经改善.
结论:
- 由于恶性贫血而导致的母体维生素B12缺乏症可以在婴儿中表现为严重的代谢和神经疾病.
- 早期诊断和维生素B12治疗对于患病婴儿的良好结果至关重要.
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