中、短链酰基辅酶A脱氢酶缺乏症患儿临床特点分析及基因突变研究

发布时间：2018-12-10 06:54

【摘要】：中、短链酰基辅酶A脱氢酶缺乏症属脂肪酸β氧化障碍疾病,其基因突变可导致中、短链脂肪酸无法进入线粒体进行氧化供能,引起多器官功能异常。本研究对2例临床表现为低血糖合并代谢性酸中毒的患儿进行血酰基肉碱及尿液有机酸分析,同时对患儿及其父母进行基因突变检测。家系1患儿,男,3 d,出生后因新生儿窒息、吸奶无力、嗜睡住院治疗。血酰基肉碱谱提示中链酰基肉碱(C6~C10)升高,其中辛酰肉碱(C8)3.52μmol/L(参考值0.02~0.2μmol/L);尿有机酸分析未见明显异常;Sanger测序发现ACADM基因7号外显子已报道纯合突变c.580AG(p.Asn194Asp)。家系2患儿,女,3个月,因咳嗽伴反复发热10余天住院治疗。血酰基肉碱谱提示血丁酰肉碱(C4)1.66μmol/L(参考值0.06~0.6μmol/L);尿有机酸分析提示乙基丙二酸55.9(参考值0~6.2);Sanger测序发现ACADS基因已报道纯合突变c.625GA(p.Gly209Ser)。研究结果提示对不明原因代谢性酸中毒及低血糖患儿应进行遗传代谢病筛查,通过家系ACADM、ACADS基因分析,将有助于中、短链酰基辅酶A脱氢酶缺乏症的诊断。
[Abstract]:The deficiency of short chain acyl coenzyme A dehydrogenase is a disorder of fatty acid 尾 oxidation. The gene mutation of short chain fatty acid can lead to the failure of short chain fatty acids to enter mitochondria for oxidative energy supply and lead to multiple organ dysfunction. In this study, blood acyl carnitine and urine organic acid were analyzed in 2 children with hypoglycemia and metabolic acidosis. Pedigrees 1, male, 3 days, neonatal asphyxia, weak milk aspiration, somnolence hospitalization. Blood acyl carnitine (C6~C10) was found to be elevated, in which octanyl carnitine (C8) was 3.52 渭 mol/L (reference value: 0.022 渭 mol/L), and urinary organic acid analysis was not abnormal. Sanger sequencing revealed that exon 7 of ACADM gene had reported homozygous mutation c.580AG (p.Asn194Asp). Family 2, female, 3 months, hospitalized for more than 10 days due to cough and recurrent fever. Blood acyl carnitine (C4) 1. 66 渭 mol/L (reference value 0. 06 0. 6 渭 mol/L), urine organic acid analysis 5. 9 (reference 0. 2. 2), blood acyl carnitine (C4) 1. 66 渭 mol/L (reference value 0. 06 0. 6 渭 mol/L). Sanger sequencing revealed that homozygous mutation c.625GA (p.Gly209Ser) had been reported in ACADS gene. The results suggest that genetic metabolic diseases should be screened in children with metabolic acidosis and hypoglycemia of unknown cause. ACADM,ACADS gene analysis in families will be helpful for the diagnosis of deficiency of short chain acyl coenzyme A dehydrogenase.
【作者单位】：柳州市妇幼保健院医学遗传科/柳州市出生缺陷预防与控制重点实验室;
【基金】：柳州市科学研究与技术开发计划项目研究成果资助(2014G020404) 广西卫生厅项目(Z2013607)
【分类号】：R722.1

【相似文献】