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Clinica Chimica Acta：肉碱-酰基肉碱转位酶缺乏症的临床及分子特征

2019-09-22 gladiator MedSci原创

临床及分子特征
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肉碱-酰基肉碱转位酶缺乏症是一种发生于SLC25A20基因突变的罕见的线粒体脂肪酸氧化常染色体隐性遗传疾病。

肉碱-酰基肉碱转位酶缺乏症是一种发生于SLC25A20基因突变的罕见的线粒体脂肪酸氧化常染色体隐性遗传疾病。严重的CACTD会导致新生儿或婴儿猝死。在此，我们报告了2016年至2017年广东5个不相关家庭的6例CACTD患者的生化和分子诊断结果。其中，5个患者出现张力减退，非酮症低血糖和出生后2 天心律失常，而另一个病人出现呼吸窘迫，张力减退和心律失常。其中5名患者在新生儿期死亡。采用串联质谱法(MS/MS)测定血中酰肉碱浓度。采用直接Sanger测序法对SLC25A20和CPT2基因序列进行分析。SLC25A20基因分析显示4例不相关患者中出现c.199-10T>G (IVS2-10T>G) 纯合突变和双胞胎中c.199-10T>G/c.719-8_c.719-1dupCCCACAG突变。

本文报道广东CACTD患者SLC25A20基因的临床特点、生化特征及分子分析。我们的结果表明c.199-10T>G可能是广东CACTD种群中最常见的变种，占观察到的突变等位基因的83%(10/12)。c.199-10T>G基因型具有严重的CACTD表型。

原始出处：

Chengfang Tang，Sichi Liu，Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China

本文系梅斯医学（MedSci）原创编译整理，转载需授权！


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    2020-01-12 marongnuan

    #酰基肉碱#

    0

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    2020-07-17 windight

    #CTA#

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=2080386, encodeId=86cf2080386de, content=<a href='/topic/show?id=920995541c0' target=_blank style='color:#2F92EE;'>#酰基肉碱#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=95541, encryptionId=920995541c0, topicName=酰基肉碱)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=b191324, createdName=marongnuan, createdTime=Sun Jan 12 22:13:00 CST 2020, time=2020-01-12, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1849753, encodeId=e6e01849e5360, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Fri Jul 17 15:13:00 CST 2020, time=2020-07-17, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1771442, encodeId=b7aa1e71442b2, content=<a href='/topic/show?id=655b31640c7' target=_blank style='color:#2F92EE;'>#分子特征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=53, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=31640, encryptionId=655b31640c7, topicName=分子特征)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=197038292186, createdName=zlawrance, createdTime=Tue May 05 00:13:00 CST 2020, time=2020-05-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=373173, encodeId=86e13e31739d, content=学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=320f5195511, createdName=妄, createdTime=Wed Sep 25 11:56:04 CST 2019, time=2019-09-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=373110, encodeId=71863e3110b4, content=学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=66, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cdnapi.center.medsci.cn/medsci/head/2019/07/01/577acf4668c2eb760152040cdd4c4196.jpg, createdBy=dc3f5107879, createdName=最帅小男护, createdTime=Mon Sep 23 22:36:42 CST 2019, time=2019-09-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=373080, encodeId=b1f33e308058, content=结直肠癌, beContent=null, objectType=article, channel=null, level=null, likeNumber=61, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f15e5193370, createdName=有D的宅夜猫, createdTime=Mon Sep 23 02:55:19 CST 2019, time=2019-09-23, status=1, ipAttribution=)]
    2020-05-05 zlawrance

    #分子特征#

    0

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    2019-09-25 妄

    学习了

    0

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    2019-09-23 最帅小男护

    学习了

    0

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    2019-09-23 有D的宅夜猫

    结直肠癌

    0