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Clinica Chimica Acta:4例线粒体3-羟基-3-甲基戊二酰辅酶a合成酶缺乏新患者的临床、生化、分子和治疗特点

2020-07-19 MedSci原创 MedSci原创

目前,仅已知30例线粒体3-羟基-3-甲基glutaryl- coa合成酶(HMGCS)缺乏患者,这是一种罕见的由HMGCS2基因突变引起的常染色体隐性遗传病。在此,我们介绍了四位新患此病的患者。

目前,仅已知30例线粒体3-羟基-3-甲基glutaryl- coa合成酶(HMGCS)缺乏患者,这是一种罕见的由HMGCS2基因突变引起的常染色体隐性遗传病。在此,我们介绍了四位新患此病的患者。

本研究记录了患者的几种代谢物的特征。采用下一代靶向测序和PCR扩增产物的多重序列比对分析HMGCS2的突变。同时,采用小基因检测转录本分析证实了剪接位点突变的致病性。

所有病例均有感染复发,但在间息期间无症状。患者1,女,8个月大感染后复发严重代谢性酸中毒,表现为虚弱、呕吐、嗜睡,但血糖正常。经过治疗,她完全苏醒了。患者2、3和4为男孩,分别在8个月、27个月和10个月时出现低血糖。葡萄糖输注逆转了症状所有四名患者均有肝肿大,腹部影像学显示脂肪肝。血清游离脂肪酸增加。患者出现尿二羧酸和尿4-羟基-6-甲基-2-吡喃酮,通过HMGCS2基因分析确认诊断,并发现该基因的7个突变(p.R188H,p.F420S,p.R206C,IVS2 + 1G> T,p.E401 *,p.A450Pfs * 7和p.Q427 *)。。

在此,我们报告了4例HMGCS缺乏的新患者的特征和遗传学。本研究将丰富我们对这种罕见的常染色体隐性遗传病的认识。

原始出处:

QiaoWangYan-LingYangClinical, biochemical, molecular and therapeutic characteristics of four new patients of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

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