多种酰基辅酶A脱氢酶缺乏症的筛查与诊治共识

2021-05-20 0 中华医学遗传学杂志.2021.38(5):414-418.

多种酰基辅酶A脱氢酶缺乏症(multiple acyl-CoA dehydrogenase deficiency,MADD)又称戊二酸血症Ⅱ型,是一种较为常见的脂肪酸氧化代谢紊乱,临床表现高度异质,从

中文标题:

多种酰基辅酶A脱氢酶缺乏症的筛查与诊治共识

发布机构:

0

发布日期:

2021-05-20

简要介绍:

多种酰基辅酶A脱氢酶缺乏症(multiple acyl-CoA dehydrogenase deficiency,MADD)又称戊二酸血症Ⅱ型,是一种较为常见的脂肪酸氧化代谢紊乱,临床表现高度异质,从新生儿期至成年期均可发病。新生儿期发病者症状重,有致死性。迟发型者常有脂质沉积性肌病以及呕吐、肝病、脑病等表现。采用串联质谱技术进行血液酰基肉碱谱分析可进行新生儿筛查及高危筛查,迟发型MADD维生素B 2治疗效果较好。本共识旨在规范MADD的筛查、诊断与治疗,以改善患者预后,减少死亡和残疾。

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    2022-03-26 ms7000000473735224

    学习👍👍👍

    0

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    2021-07-08 greygor

    学习了

    0

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    2021-07-01 微探

    建议指导性文章不扣或少扣积分

    0