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维生素B_(12)缺乏导致继发性甲基丙二酸尿症9例临床分析 被引量:3

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摘要 【目的】探讨婴幼儿继发性甲基丙二酸尿症的临床特征、诊断和治疗方法。【方法】对9例继发性甲基丙二酸尿症患儿的临床表现、生化特点、诊疗经过以及其营养状况等资料进行回顾性分析。【结果】临床表现主要有不同程度的巨幼红细胞性贫血9例,智力运动发育落后或倒退8例、惊厥4例、嗜睡4例、发作性呕吐及喂养困难3例、肌张力异常8例等。代谢性酸中毒6例,高氨血症5例。全部患儿血清维生素B12浓度低于正常而尿甲基丙二酸浓度明显增高。经维生素B12、叶酸补充治疗后,7例发育正常,2例遗留轻度智力损害。【结论】维生素B12缺乏导致甲基丙二酸尿症的临床表现与遗传性甲基丙二酸尿症相似。早期诊断及维生素B12、叶酸补充治疗是改善预后的关键。
出处 《中国儿童保健杂志》 CAS 2008年第4期469-471,共3页 Chinese Journal of Child Health Care
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参考文献11

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