戊二酸血症1型诊治专家共识

2021-01-05 中国儿科相关医学专家组(统称) 中华医学遗传学杂志.2021,38(1):1-6.

戊二酸血症1型(glutaricacidemia type 1,GA1)是一种常染色体隐性遗传病,由于戊二酰辅酶A脱氢酶活性降低或缺失导致赖氨酸、羟赖氨酸及色氨酸分解代谢受阻,代谢产物戊二

中文标题:

戊二酸血症1型诊治专家共识

发布日期:

2021-01-05

简要介绍:

 戊二酸血症1型(glutaricacidemia type 1,GA1)是一种常染色体隐性遗传病,由于戊二酰辅酶A脱氢酶活性降低或缺失导致赖氨酸、羟赖氨酸及色氨酸分解代谢受阻,代谢产物戊二酰肉碱、戊二酸等在体内异常蓄积,引起代谢紊乱,主要导致神经系统受损。患者临床表现为巨颅、肌张力障碍、运动障碍及发育落后等,常在婴幼儿期由于感染、疫苗接种及手术等诱发急性脑病。由于GA1罕见,临床表现与其他神经系统疾病表现类似,特异性不强,易漏诊或误诊。为了早期诊断和治疗,改善患儿预后,指导临床医师合理诊治,由国内儿科内分泌遗传代谢科专家共同讨论,结合国内外研究进展及国际指南,制定了本共识。

 

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评论区 (5)
#插入话题
  1. [GetPortalCommentsPageByObjectIdResponse(id=1085139, encodeId=12091085139e5, content=不错的,谢谢分享, beContent=null, objectType=guider, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=c7982451255, createdName=crazyboys696, createdTime=Tue Dec 28 16:59:22 CST 2021, time=2021-12-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1063261, encodeId=90a31063261b4, content=谢谢分享,很方便, beContent=null, objectType=guider, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20211023/65ac472dd2e24b679dfe18ac2f07b72b/52d96752277042cf8bc76c0936f6bf8f.jpg, createdBy=6a7a5645835, createdName=ms4000001161046699, createdTime=Sat Oct 23 22:02:41 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1063260, encodeId=0d5f1063260c5, content=不错,谢谢分享, beContent=null, objectType=guider, channel=null, level=null, likeNumber=44, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20211023/65ac472dd2e24b679dfe18ac2f07b72b/52d96752277042cf8bc76c0936f6bf8f.jpg, createdBy=6a7a5645835, createdName=ms4000001161046699, createdTime=Sat Oct 23 22:01:22 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1053522, encodeId=2bc8105352248, content=学习, beContent=null, objectType=guider, channel=null, level=null, likeNumber=39, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=8d355585859, createdName=ms8000000444017043, createdTime=Tue Sep 21 16:19:40 CST 2021, time=2021-09-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=952877, encodeId=114b9528e753, content=谢谢分享, beContent=null, objectType=guider, channel=null, level=null, likeNumber=58, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20210331/f252afa97a944358bf9b7cfcabf24c55/78f4f5d1378c4db192fcfc683d82133b.jpg, createdBy=bf165475295, createdName=林医生, createdTime=Wed Mar 31 19:08:08 CST 2021, time=2021-03-31, status=1, ipAttribution=)]
    2021-12-28 crazyboys696

    不错的,谢谢分享

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=1085139, encodeId=12091085139e5, content=不错的,谢谢分享, beContent=null, objectType=guider, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=c7982451255, createdName=crazyboys696, createdTime=Tue Dec 28 16:59:22 CST 2021, time=2021-12-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1063261, encodeId=90a31063261b4, content=谢谢分享,很方便, beContent=null, objectType=guider, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20211023/65ac472dd2e24b679dfe18ac2f07b72b/52d96752277042cf8bc76c0936f6bf8f.jpg, createdBy=6a7a5645835, createdName=ms4000001161046699, createdTime=Sat Oct 23 22:02:41 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1063260, encodeId=0d5f1063260c5, content=不错,谢谢分享, beContent=null, objectType=guider, channel=null, level=null, likeNumber=44, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20211023/65ac472dd2e24b679dfe18ac2f07b72b/52d96752277042cf8bc76c0936f6bf8f.jpg, createdBy=6a7a5645835, createdName=ms4000001161046699, createdTime=Sat Oct 23 22:01:22 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1053522, encodeId=2bc8105352248, content=学习, beContent=null, objectType=guider, channel=null, level=null, likeNumber=39, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=8d355585859, createdName=ms8000000444017043, createdTime=Tue Sep 21 16:19:40 CST 2021, time=2021-09-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=952877, encodeId=114b9528e753, content=谢谢分享, beContent=null, objectType=guider, channel=null, level=null, likeNumber=58, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20210331/f252afa97a944358bf9b7cfcabf24c55/78f4f5d1378c4db192fcfc683d82133b.jpg, createdBy=bf165475295, createdName=林医生, createdTime=Wed Mar 31 19:08:08 CST 2021, time=2021-03-31, status=1, ipAttribution=)]
    2021-10-23 ms4000001161046699

    谢谢分享,很方便

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=1085139, encodeId=12091085139e5, content=不错的,谢谢分享, beContent=null, objectType=guider, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=c7982451255, createdName=crazyboys696, createdTime=Tue Dec 28 16:59:22 CST 2021, time=2021-12-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1063261, encodeId=90a31063261b4, content=谢谢分享,很方便, beContent=null, objectType=guider, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20211023/65ac472dd2e24b679dfe18ac2f07b72b/52d96752277042cf8bc76c0936f6bf8f.jpg, createdBy=6a7a5645835, createdName=ms4000001161046699, createdTime=Sat Oct 23 22:02:41 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1063260, encodeId=0d5f1063260c5, content=不错,谢谢分享, beContent=null, objectType=guider, channel=null, level=null, likeNumber=44, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20211023/65ac472dd2e24b679dfe18ac2f07b72b/52d96752277042cf8bc76c0936f6bf8f.jpg, createdBy=6a7a5645835, createdName=ms4000001161046699, createdTime=Sat Oct 23 22:01:22 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1053522, encodeId=2bc8105352248, content=学习, beContent=null, objectType=guider, channel=null, level=null, likeNumber=39, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=8d355585859, createdName=ms8000000444017043, createdTime=Tue Sep 21 16:19:40 CST 2021, time=2021-09-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=952877, encodeId=114b9528e753, content=谢谢分享, beContent=null, objectType=guider, channel=null, level=null, likeNumber=58, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20210331/f252afa97a944358bf9b7cfcabf24c55/78f4f5d1378c4db192fcfc683d82133b.jpg, createdBy=bf165475295, createdName=林医生, createdTime=Wed Mar 31 19:08:08 CST 2021, time=2021-03-31, status=1, ipAttribution=)]
    2021-10-23 ms4000001161046699

    不错,谢谢分享

    0

  4. [GetPortalCommentsPageByObjectIdResponse(id=1085139, encodeId=12091085139e5, content=不错的,谢谢分享, beContent=null, objectType=guider, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=c7982451255, createdName=crazyboys696, createdTime=Tue Dec 28 16:59:22 CST 2021, time=2021-12-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1063261, encodeId=90a31063261b4, content=谢谢分享,很方便, beContent=null, objectType=guider, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20211023/65ac472dd2e24b679dfe18ac2f07b72b/52d96752277042cf8bc76c0936f6bf8f.jpg, createdBy=6a7a5645835, createdName=ms4000001161046699, createdTime=Sat Oct 23 22:02:41 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1063260, encodeId=0d5f1063260c5, content=不错,谢谢分享, beContent=null, objectType=guider, channel=null, level=null, likeNumber=44, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20211023/65ac472dd2e24b679dfe18ac2f07b72b/52d96752277042cf8bc76c0936f6bf8f.jpg, createdBy=6a7a5645835, createdName=ms4000001161046699, createdTime=Sat Oct 23 22:01:22 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1053522, encodeId=2bc8105352248, content=学习, beContent=null, objectType=guider, channel=null, level=null, likeNumber=39, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=8d355585859, createdName=ms8000000444017043, createdTime=Tue Sep 21 16:19:40 CST 2021, time=2021-09-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=952877, encodeId=114b9528e753, content=谢谢分享, beContent=null, objectType=guider, channel=null, level=null, likeNumber=58, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20210331/f252afa97a944358bf9b7cfcabf24c55/78f4f5d1378c4db192fcfc683d82133b.jpg, createdBy=bf165475295, createdName=林医生, createdTime=Wed Mar 31 19:08:08 CST 2021, time=2021-03-31, status=1, ipAttribution=)]
    2021-09-21 ms8000000444017043

    学习

    0

  5. [GetPortalCommentsPageByObjectIdResponse(id=1085139, encodeId=12091085139e5, content=不错的,谢谢分享, beContent=null, objectType=guider, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=c7982451255, createdName=crazyboys696, createdTime=Tue Dec 28 16:59:22 CST 2021, time=2021-12-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1063261, encodeId=90a31063261b4, content=谢谢分享,很方便, beContent=null, objectType=guider, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20211023/65ac472dd2e24b679dfe18ac2f07b72b/52d96752277042cf8bc76c0936f6bf8f.jpg, createdBy=6a7a5645835, createdName=ms4000001161046699, createdTime=Sat Oct 23 22:02:41 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1063260, encodeId=0d5f1063260c5, content=不错,谢谢分享, beContent=null, objectType=guider, channel=null, level=null, likeNumber=44, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20211023/65ac472dd2e24b679dfe18ac2f07b72b/52d96752277042cf8bc76c0936f6bf8f.jpg, createdBy=6a7a5645835, createdName=ms4000001161046699, createdTime=Sat Oct 23 22:01:22 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1053522, encodeId=2bc8105352248, content=学习, beContent=null, objectType=guider, channel=null, level=null, likeNumber=39, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=8d355585859, createdName=ms8000000444017043, createdTime=Tue Sep 21 16:19:40 CST 2021, time=2021-09-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=952877, encodeId=114b9528e753, content=谢谢分享, beContent=null, objectType=guider, channel=null, level=null, likeNumber=58, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20210331/f252afa97a944358bf9b7cfcabf24c55/78f4f5d1378c4db192fcfc683d82133b.jpg, createdBy=bf165475295, createdName=林医生, createdTime=Wed Mar 31 19:08:08 CST 2021, time=2021-03-31, status=1, ipAttribution=)]
    2021-03-31 林医生

    谢谢分享

    0