Late-onset multiple acyl-CoA dehydrogenase deficiency with cardiac syncope: A case report
Late-onset multiple acyl-CoA dehydrogenase deficiency with cardiac syncope: A case report作者机构：Department of Neurology Frist Hospital of Shanxi Medical University
出 版 物：《World Journal of Clinical Cases》 (世界临床病例杂志)
年 卷 期：2020年第8卷第5期
页 面：995-1001页
核心收录：
学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学]
主 题：Late-onset multiple acyl-CoA dehydrogenase deficiency ETFDH Cardiac syncope Supraventricular tachycardia Mitochondrion Carnitine Case report
摘 要：BACKGROUND Multiple acyl-CoA dehydrogenase deficiency(MADD)is an uncommon autosomal recessive disorder of mitochondrial fatty acid *** is a transient loss of consciousness due to acute global cerebral ***-onset MADD with syncope has not been reported *** SUMMARY We report a 17-year-old girl with exercise intolerance and muscle *** felt palpitation and shortness of breath after short bouts of *** also suffered from a transient loss of consciousness many *** biopsy showed lipid *** mutation analysis indicated a compound heterozygous mutation c.250GA(p.A84T)and c.872TG(p.V291G)in the ETFDH *** results of Holter electrocardiogram monitoring showed supraventricular tachycardia when the patient experienced a loss of *** treatment with riboflavin and carnitine,muscle weakness and palpitation symptoms improved *** loss of consciousness occurred,and the Holter electrocardiogram monitoring was *** Late-onset MADD with supraventricular tachycardia can cause cardiac *** and riboflavin supplement were beneficial for treating the late-onset MADD with cardiac *** should be paid to the prevention of cardiac syncope when diagnosing late-onset MADD.
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