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Clinica Chimica Acta：墨西哥异戊酸血症患者的临床特征

2020-03-19 MedSci原创 MedSci原创

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异戊酸血症(IVA)是由于缺乏异戊酸辅酶a脱氢酶而导致的先天性代谢缺陷。IVA的临床表现包括肠胃病和进行性神经症状，可导致永久性残疾和死亡。

异戊酸血症(IVA)是由于缺乏异戊酸辅酶a脱氢酶而导致的先天性代谢缺陷。IVA的临床表现包括肠胃病和进行性神经症状，可导致永久性残疾和死亡。通过新生儿筛查(NBS)早期发现和治疗可促进正常发育。在这项研究中，对13名墨西哥患者的IVD基因的临床总结、生化测量和靶向下一代测序(tNGS)数据进行了比较。患者主要症状为呕吐、拒食、腹痛、警觉性下降、嗜睡、昏迷、昏迷、张力减退，共济失调，幻觉，癫痫;贫血、中性粒细胞减少症和全血细胞减少症。

研究结果显示有症状患者（8.78μm）和筛查阳性新生儿（2.23μm）的异戊烯肉碱平均血药浓度均高于参考值（0.5μm）。 该队列的分子谱是异质的，有14个不同的变异，其中7个是以前描述过的，7个是新的。最常见的变体是c.158G→> C（p.R53P）。

在这项研究中，我们发现诊断时间较长（平均44个月）。 因此，必须提高医师对这种可治疗状况的认识。 生化IVA NBS以及分子研究（例如tNGS）将能够鉴定该疾病的潜在无症状形式，并会改善基因型与表型的关系，管理决策和随访。

原始出处：

Isabel Ibarra-González，Cynthia Fernández-Lainez，Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia

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    2020-03-31 drj2003

    #墨西哥#

    0

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    2020-03-19 yeye5224612

    #临床特征#

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=1941081, encodeId=8d2d1941081ca, content=<a href='/topic/show?id=e79c423459f' target=_blank style='color:#2F92EE;'>#墨西哥#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42345, encryptionId=e79c423459f, topicName=墨西哥)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=80c5136, createdName=drj2003, createdTime=Tue Mar 31 11:12:33 CST 2020, time=2020-03-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1842923, encodeId=fcbf184292370, content=<a href='/topic/show?id=112222886b8' target=_blank style='color:#2F92EE;'>#临床特征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=21, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=22886, encryptionId=112222886b8, topicName=临床特征)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a12645, createdName=yeye5224612, createdTime=Thu Mar 19 20:12:33 CST 2020, time=2020-03-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1849881, encodeId=1fca1849881a6, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=19, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Tue Dec 01 07:12:33 CST 2020, time=2020-12-01, status=1, ipAttribution=)]
    2020-12-01 windight

    #CTA#

    0