甲基丙二酸血症3例报告并文献复习

甲基丙二酸血症3例报告并文献复习
赵培伟;蔡晓楠;吴革菲;乐鑫;胡家胜;刘智胜;何学莲
【期刊名称】《临床儿科杂志》
【年(卷),期】2016(034)012
【摘要】Objective To analyze the clinical features and gene mutation in mthylmalonic acidemia (MMA) accompanied by homocysteinemia (cblC), and review the relevant literatures. Methods The clinical features of 3 cases of MMA diagnosed by gene detection were retrospectively analyzed, and meanwhile the pertinent literatures of pathogenesis of MMA, especially combined with late-onset cblC and its gene detection, were reviewed. Results Patient 1 (26 days old) suffered from intermittent convulsions for 3 days, with isosuccinic acid 175.8 μmol/L, C3/C2 rate 1.363, homocysteine > 65 μmol/L and abnormal EEG. MMACHC gene detection found an exon deficiency (delEXON1), which has not been reported. Patient 2 ( 12 year old) was hospitalized for limb shaking, hyperspasmia and vomiting. His isosuccinic acid level was 334.3 μmol/L, C3/ C2 rate was 0.37, homocysteine > 65 μmol/L, and had abnormal EEG. MMACHC gene detection found the mutations of c.482G > A and c.609G > A. Patient 3 was hospitalized for intermittent convulsions for 20 days, whose isosuccinic acid, C3/ C2 rate, and homocysteine were increased. MMACHC gene detection found the mutations of c.394C > T and c.540del8 and c.540del8 had not been reported. Review of literatures discovered that MMA was
combined with epileptic seizure in some patents, which further validate
that the mutation in MMACHC gene c.482G > A may be related to the late-onset of cblC. Conclusions Gene detection contributes to the diagnosis of MMA; the mutation of MMACHC gene c.482G>A may be related to the
late-onset of cblC; delEXON1 and c.540del8 are new mutations which have not been reported.%目的：探讨甲基丙二酸血症（MMA）伴同型半胱氨酸血症（cblC）的临床及基因突变特点。

方法回顾性分析经基因检测确诊的3例MMA
患儿的临床资料及基因检测结果，并复习相关文献。

结果3例患儿均为男性。

例1患儿26日龄，间断抽搐3 d入院；血甲基丙二酸175.8μmol/L，丙酰肉碱/乙酰
肉碱比值（C3/C2）1.363，同型半胱氨酸 > 65μmol/L，脑电图异常，MMACHC 基因外显子1缺失，delEXON1未见文献报道。

例2患儿12岁，因肢体抖动、抽搐、呕吐入院，血甲基丙二酸334.3μmol/L，C3/C2比值0.37，同型半胱氨酸
 > 65μmol/L，脑电图异常，MMACHC基因c.482G > A、c.609G > A突变。

例3患儿3个月，因间断抽搐20 d入院，血甲基丙二酸154.3μmol/L、C3/C20.84，MMACHC基因c.394C > T、c.540del8突变，其中c.540del8未见报道。

文献复习发现，部分MMA患者合并癫痫发作，进一步验证MMACHC基因c.482G > A 突变可能与晚发型的cblC相关。

结论基因检测有助于MMA的诊断，MMACHC
基因c.482G > A突变可能与晚发型cblC相关；delEXON1、c.540del8为新突变。

【总页数】4页(P894-897)
【作者】赵培伟;蔡晓楠;吴革菲;乐鑫;胡家胜;刘智胜;何学莲
【作者单位】武汉市儿童医院湖北武汉 430016;武汉市儿童医院湖北武汉430016;武汉市儿童医院湖北武汉 430016;武汉市儿童医院湖北武汉 430016;武
汉市儿童医院湖北武汉 430016;武汉市儿童医院湖北武汉 430016;武汉市儿童医院湖北武汉 430016
【正文语种】中文
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