2例ACADM基因复合杂合突变所致的中链酰基辅酶A脱氢酶缺乏症

发布时间：2018-07-22 17:08

【摘要】：目的:对2例生后串联质谱遗传代谢病检测发现疑似中链酰基辅酶A脱氢酶缺乏症的患儿进行临床和基因检测,并进行随访,以明确诊断。方法:采集患儿外周血检测遗传代谢病代谢产物、肝功、采集尿检测尿有机酸,采集患儿及其父母的外周血进行高通量测序和Sanger测序验证中链酰基辅酶A脱氢酶基因ACADM,并对基因异常进行分析。结果:(1)外周血串联质谱LC-MS检测发现患儿中链脂酰肉碱(C6~C10)升高;(2)肝功能均出现异常;(3)尿有机酸检测其中一例患者甘油和双羧酸略有升高,另一例未见异常;(4)基因检测显示患儿均为ACADM基因复合杂合子,基因异常分别来至无症状的单突变携带者父亲和母亲,复合杂合突变导致合成的中链酰基辅酶A脱氢酶活性异常。结论:ACADM基因复合突变导致合成中链酰基辅酶A脱氢酶活性降低,患儿分解中链脂肪酸能力下降,导致代谢产物异常和肝功能异常。
[Abstract]:Objective: to investigate the clinical and genetic characteristics of 2 children with suspected middle chain acyl coenzyme A dehydrogenase deficiency detected by tandem mass spectrometry (tandem mass spectrometry) and follow up for diagnosis. Methods: peripheral blood samples were collected to detect metabolites of genetic metabolic diseases, liver function and urine samples to detect urinary organic acids. High throughput sequencing and Sanger sequencing were performed in peripheral blood of the children and their parents to verify the chain acyl coenzyme A dehydrogenase gene ACADM. and the gene abnormalities were analyzed. Results: (1) LC-MS detection of peripheral blood tandem mass spectrometry showed that the levels of streptocarnitine (C6) C _ (10) were increased, (2) liver function was abnormal, (3) urine organic acid was detected in one of the patients, glycerol and dicarboxylic acid were slightly increased. In the other case, there was no abnormality. (4) the gene analysis showed that all the children were ACADM gene complex heterozygous, the gene abnormality came to the asymptomatic single mutation carrier father and mother respectively, and the compound heterozygosity mutation resulted in the abnormal activity of the synthesized middle chain acyl coenzyme A dehydrogenase. Conclusion the complex mutation of the weight ACADM gene leads to the decrease of the activity of streptocoenzyme A dehydrogenase in the synthesis and the decrease of the ability of the chain fatty acids in the decomposition of children, which leads to the abnormality of metabolites and liver function.
【作者单位】：四川大学华西第二医院儿科;
【分类号】：R725.9

【相似文献】