肌酸缺乏综合征1例报告
发布时间：2018-09-01 16:31
【摘要】：正肌酸缺乏综合征(CDS)是一组影响肌酸合成和转运的先天性遗传代谢性疾病,其生化特点为脑肌酸缺乏,故也称大脑CDS。患者发育迟滞的轻重程度不同,故表现也不同,而运动发育障碍多为锥体外系的表现。本文报告1例为胍基乙酸甲基转移酶(GAMT)缺陷的CDS患儿的临床资料并复习相关文献。1临床资料1.1病史患儿女,3岁。因"间断惊厥发作4个月,加重1 d",于2015-12-30入内蒙古医科大学
[Abstract]:Orthocreatine deficiency syndrome (CDS) is a group of congenital metabolic diseases that affect the synthesis and transport of creatine. Its biochemical characteristics are brain creatine deficiency, so it is also called brain CDS.. The degree of development retardation is different, so the manifestation is different, and the dyskinesia is mostly the manifestation of extrapyramidal system. This paper reports the clinical data of a case of CDS with guanidine acetate methyltransferase (GAMT) deficiency. Admitted to Inner Mongolia Medical University in 2015-12-30, due to "intermittent convulsion for 4 months, aggravated by 1 day"
【作者单位】： 内蒙古医科大学附属医院儿科;
【分类号】：R725.8
，
本文编号：2217751
[Abstract]:Orthocreatine deficiency syndrome (CDS) is a group of congenital metabolic diseases that affect the synthesis and transport of creatine. Its biochemical characteristics are brain creatine deficiency, so it is also called brain CDS.. The degree of development retardation is different, so the manifestation is different, and the dyskinesia is mostly the manifestation of extrapyramidal system. This paper reports the clinical data of a case of CDS with guanidine acetate methyltransferase (GAMT) deficiency. Admitted to Inner Mongolia Medical University in 2015-12-30, due to "intermittent convulsion for 4 months, aggravated by 1 day"
【作者单位】： 内蒙古医科大学附属医院儿科;
【分类号】：R725.8
，
本文编号：2217751
本文链接：https://www.wllwen.com/yixuelunwen/eklw/2217751.html
最近更新
教材专著
