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| 甲基丙二酸血症3 例报告并文献复习 | |
| 引用本文： | 赵培伟,蔡晓楠,吴革菲,乐鑫,胡家胜,刘智胜,何学莲. 甲基丙二酸血症3 例报告并文献复习[J]. 临床儿科杂志, 2016, 34(12): 894-897. DOI: 10.3969/j.issn.1000-3606.2016.12.004 |
| 作者姓名： | 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） |
| 基金项目： | 武汉市科技创新平台--儿童神经疾病临床医学研究中心资助项目(武科技2014-160) |
| 摘 要： | 目的探讨甲基丙二酸血症(MMA)伴同型半胱氨酸血症(cbl C)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,del EXON1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.482GA、c.609GA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/C2 0.84,MMACHC基因c.394CT、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.482GA突变可能与晚发型的cbl C相关。结论基因检测有助于MMA的诊断,MMACHC基因c.482GA突变可能与晚发型cbl C相关;del EXON 1、c.540 del 8为新突变。 |
| 关 键 词： | 甲基丙二酸血症 同型半胱氨酸血症 MMACHC基因 基因检测 |
| 收稿时间： | 2016-12-15 |
Methylmalonic acidemia: 3 cases report and literature review |
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| ZHAO Peiwei,CAI Xiaonan,WU Gefei,YUE Xin,HU Jiasheng,LIU Zhisheng,HE Xuelian. Methylmalonic acidemia: 3 cases report and literature review[J]. The Journal of Clinical Pediatrics, 2016, 34(12): 894-897. DOI: 10.3969/j.issn.1000-3606.2016.12.004 | |
| Authors: | ZHAO Peiwei CAI Xiaonan WU Gefei YUE Xin HU Jiasheng LIU Zhisheng HE Xuelian |
| Affiliation: | Wuhan Medical & Healthcare Center for Women and Children, Wuhan Children’s Hospital, Wuhan 430016 , Hubei, China |
| Abstract: | 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. |
| Keywords: | methylmalonic aciduria homocysteine MMACHC gene gene detection |
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