检验

订阅

MedSci主页 / 所有栏目 / 检验

Clinica Chimica Acta：硫胺磷酸激酶缺乏和TPK1突变表现为生物素应答的基底神经节病

2019-12-21 MedSci MedSci原创

基底神经节病
关注

硫胺磷酸激酶的产物是许多酶的辅因子，包括丙酮酸脱氢酶、<span lang="EN-US" style="font-size:12.0pt;mso-bidi-font-size:14.0pt;font-family:&quot;Calibri&quot;,&quot;sans-serif&quot;; mso-fareast-font-family:宋体;mso-bidi-font-family

硫胺磷酸激酶的产物是许多酶的辅因子，包括丙酮酸脱氢酶、2-酮戊二酸和支链酮酸。最近已在少数患者中发现了它的缺陷，其中一些人患有李氏综合征表型。

研究发现有Leigh表型的患者最初血浆中的生物素浓度低，并且大量的生物素尿排泄。 尽管用生物素和硫胺素治疗，她的疾病仍在恶化。 且在TPK1基因中发现了突变c.311delG和c.426G→> C。

原始出处：

William L. Nyhan，Karen McGowan，Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease

本文系梅斯医学（MedSci）原创编译整理，转载需授权！


版权声明：
本网站所有内容来源注明为“梅斯医学”或“MedSci原创”的文字、图片和音视频资料，版权均属于梅斯医学所有。非经授权，任何媒体、网站或个人不得转载，授权转载时须注明来源为“梅斯医学”。其它来源的文章系转载文章，或“梅斯号”自媒体发布的文章，仅系出于传递更多信息之目的，本站仅负责审核内容合规，其内容不代表本站立场，本站不负责内容的准确性和版权。如果存在侵权、或不希望被转载的媒体或个人可与我们联系，我们将立即进行删除处理。
在此留言
评论区 (4)
#插入话题
  1. [GetPortalCommentsPageByObjectIdResponse(id=2040668, encodeId=6d7c2040668e4, content=<a href='/topic/show?id=04fe42058e0' target=_blank style='color:#2F92EE;'>#基底神经节#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=40, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42058, encryptionId=04fe42058e0, topicName=基底神经节)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=d8f4110, createdName=guojianrong, createdTime=Thu Dec 26 06:36:00 CST 2019, time=2019-12-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1849820, encodeId=dd4a1849820da, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Sun Nov 15 11:36:00 CST 2020, time=2020-11-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1496081, encodeId=b0ca1496081c0, content=<a href='/topic/show?id=9c516685eea' target=_blank style='color:#2F92EE;'>#激酶#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=66857, encryptionId=9c516685eea, topicName=激酶)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=73449239400, createdName=redcrab, createdTime=Mon Dec 23 03:36:00 CST 2019, time=2019-12-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1510601, encodeId=e6791510601bb, content=<a href='/topic/show?id=3eb76942862' target=_blank style='color:#2F92EE;'>#生物素#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=69428, encryptionId=3eb76942862, topicName=生物素)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=441810221946, createdName=lilili1107, createdTime=Mon Dec 23 03:36:00 CST 2019, time=2019-12-23, status=1, ipAttribution=)]
    2019-12-26 guojianrong

    #基底神经节#

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=2040668, encodeId=6d7c2040668e4, content=<a href='/topic/show?id=04fe42058e0' target=_blank style='color:#2F92EE;'>#基底神经节#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=40, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42058, encryptionId=04fe42058e0, topicName=基底神经节)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=d8f4110, createdName=guojianrong, createdTime=Thu Dec 26 06:36:00 CST 2019, time=2019-12-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1849820, encodeId=dd4a1849820da, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Sun Nov 15 11:36:00 CST 2020, time=2020-11-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1496081, encodeId=b0ca1496081c0, content=<a href='/topic/show?id=9c516685eea' target=_blank style='color:#2F92EE;'>#激酶#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=66857, encryptionId=9c516685eea, topicName=激酶)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=73449239400, createdName=redcrab, createdTime=Mon Dec 23 03:36:00 CST 2019, time=2019-12-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1510601, encodeId=e6791510601bb, content=<a href='/topic/show?id=3eb76942862' target=_blank style='color:#2F92EE;'>#生物素#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=69428, encryptionId=3eb76942862, topicName=生物素)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=441810221946, createdName=lilili1107, createdTime=Mon Dec 23 03:36:00 CST 2019, time=2019-12-23, status=1, ipAttribution=)]
    2020-11-15 windight

    #CTA#

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=2040668, encodeId=6d7c2040668e4, content=<a href='/topic/show?id=04fe42058e0' target=_blank style='color:#2F92EE;'>#基底神经节#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=40, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42058, encryptionId=04fe42058e0, topicName=基底神经节)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=d8f4110, createdName=guojianrong, createdTime=Thu Dec 26 06:36:00 CST 2019, time=2019-12-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1849820, encodeId=dd4a1849820da, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Sun Nov 15 11:36:00 CST 2020, time=2020-11-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1496081, encodeId=b0ca1496081c0, content=<a href='/topic/show?id=9c516685eea' target=_blank style='color:#2F92EE;'>#激酶#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=66857, encryptionId=9c516685eea, topicName=激酶)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=73449239400, createdName=redcrab, createdTime=Mon Dec 23 03:36:00 CST 2019, time=2019-12-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1510601, encodeId=e6791510601bb, content=<a href='/topic/show?id=3eb76942862' target=_blank style='color:#2F92EE;'>#生物素#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=69428, encryptionId=3eb76942862, topicName=生物素)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=441810221946, createdName=lilili1107, createdTime=Mon Dec 23 03:36:00 CST 2019, time=2019-12-23, status=1, ipAttribution=)]
    2019-12-23 redcrab

    #激酶#

    0

  4. [GetPortalCommentsPageByObjectIdResponse(id=2040668, encodeId=6d7c2040668e4, content=<a href='/topic/show?id=04fe42058e0' target=_blank style='color:#2F92EE;'>#基底神经节#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=40, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42058, encryptionId=04fe42058e0, topicName=基底神经节)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=d8f4110, createdName=guojianrong, createdTime=Thu Dec 26 06:36:00 CST 2019, time=2019-12-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1849820, encodeId=dd4a1849820da, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Sun Nov 15 11:36:00 CST 2020, time=2020-11-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1496081, encodeId=b0ca1496081c0, content=<a href='/topic/show?id=9c516685eea' target=_blank style='color:#2F92EE;'>#激酶#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=66857, encryptionId=9c516685eea, topicName=激酶)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=73449239400, createdName=redcrab, createdTime=Mon Dec 23 03:36:00 CST 2019, time=2019-12-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1510601, encodeId=e6791510601bb, content=<a href='/topic/show?id=3eb76942862' target=_blank style='color:#2F92EE;'>#生物素#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=69428, encryptionId=3eb76942862, topicName=生物素)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=441810221946, createdName=lilili1107, createdTime=Mon Dec 23 03:36:00 CST 2019, time=2019-12-23, status=1, ipAttribution=)]
    2019-12-23 lilili1107

    #生物素#

    0