肌酸缺乏綜合征1例報(bào)告
發(fā)布時(shí)間：2018-09-01 16:31
【摘要】：正肌酸缺乏綜合征(CDS)是一組影響肌酸合成和轉(zhuǎn)運(yùn)的先天性遺傳代謝性疾病,其生化特點(diǎn)為腦肌酸缺乏,故也稱大腦CDS�；颊甙l(fā)育遲滯的輕重程度不同,故表現(xiàn)也不同,而運(yùn)動(dòng)發(fā)育障礙多為錐體外系的表現(xiàn)。本文報(bào)告1例為胍基乙酸甲基轉(zhuǎn)移酶(GAMT)缺陷的CDS患兒的臨床資料并復(fù)習(xí)相關(guān)文獻(xiàn)。1臨床資料1.1病史患兒女,3歲。因"間斷驚厥發(fā)作4個(gè)月,加重1 d",于2015-12-30入內(nèi)蒙古醫(yī)科大學(xué)
[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"
【作者單位】： 內(nèi)蒙古醫(yī)科大學(xué)附屬醫(yī)院兒科;
【分類號(hào)】：R725.8
，
本文編號(hào)：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"
【作者單位】： 內(nèi)蒙古醫(yī)科大學(xué)附屬醫(yī)院兒科;
【分類號(hào)】：R725.8
，
本文編號(hào)：2217751
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