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1例枫糖尿病患者的病情观察与诊断 被引量:1

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摘要 枫糖尿病是常染色体隐性遗传病,由于a-酮酸脱氢酶复合体缺陷,使支链氨基酸(亮氨酸、异亮氨酸和缬氨酸)转氨基后形成的支链酮酸不能脱羧而蓄积于体内,抑制神经递质功能和髓鞘发育并可发生酮酸中毒和低血糖[1],如未能及时诊断并进行有效的处理,患儿预后极差。2010年我科收治了首例该病患儿,护士对患者进行病情观察可为医生修改诊疗方案提供依据,现报告如下。
作者 林春玲
出处 《吉林医学》 CAS 2012年第4期890-890,共1页 Jilin Medical Journal
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  • 1宋力.枫糖尿病的研究新进展[J].国外医学(儿科学分册),1996,23(4):202-205. 被引量:6
  • 2Chuang DT,Shih VE. Maple synlp urine disease ( branched -chain ketoaciduria) [ M]. Scriver CR, Be audet AL, Sly WL, et al. McGrawHill, New York,2001 : 1971.

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