|本期目录/Table of Contents|

[1]李冰 综述,王晓敏 审校.儿童极长链酰基辅酶A脱氢酶缺乏症诊疗新进展[J].天津医科大学学报,2022,28(05):572-576.
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儿童极长链酰基辅酶A脱氢酶缺乏症诊疗新进展(PDF)
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《天津医科大学学报》[ISSN:1006-8147/CN:12-1259/R]

卷:
28卷
期数:
2022年05期
页码:
572-576
栏目:
综述
出版日期:
2022-09-20

文章信息/Info

Title:
-
文章编号:
1006-8147(2022)05-0572-05
作者:
李冰 综述; 王晓敏 审校
（天津大学儿童医院重症医学科，天津300134）
Author(s):
-
关键词:
极长链酰基辅酶A脱氢酶缺乏症; ACADVL基因; 儿童; 诊断; 治疗
Keywords:
-
分类号:
R725.8
DOI:
-
文献标志码:
A
摘要:
极长链酰基辅酶A脱氢酶缺乏症 （VLCADD）是线粒体脂肪酸β氧化初始阶段酶的缺陷所致脂肪酸代谢障碍疾病。发生在从出生到青春期的任意阶段, 临床表型存在异质性, 其严重程度和时间具有显著特征。常见的确诊方法是血浆酰基肉碱谱和ACADVL基因分子检测，亦可通过酶学检测、脂肪酸氧化流量分析、二代测序（NGS）、体外探针测定、免疫印迹法等辅助诊断。治疗应避免长时间禁食,补充中链三酰甘油 (MCT) 、低长链脂肪酸、高碳水化合物饮食，应用提高残余酶活性药物、补充三羧酸循环中间代谢产物等方式改善代谢异常。因此通过早期积极筛查及诊断，指导临床医生对疾病认识并早期干预治疗，可极大地降低患儿的病死率。
Abstract:
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参考文献/References:

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相似文献/References:

备注/Memo

备注/Memo:
作者简介 李冰（1983-），女，主治医师，硕士，研究方向：罕见病及遗传代谢病，E-mail：duaiyong@sina.cn。
更新日期/Last Update: 2022-09-20