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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

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6CACTD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SLC25A20CPT2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 TangSichi LiuClinical 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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    2020-07-17 windight
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    2019-09-25

    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

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