国际儿科学杂志
國際兒科學雜誌
국제인과학잡지
INTERNATIONAL JOURNAL OF PEDIATRICS
2011年
5期
429-433
,共5页
极长链酰基辅酶A脱氢酶%极长链酰基辅酶A脱氢酶缺乏症
極長鏈酰基輔酶A脫氫酶%極長鏈酰基輔酶A脫氫酶缺乏癥
겁장련선기보매A탈경매%겁장련선기보매A탈경매결핍증
Very long chain acyl-CoA dehydrogenase%Very long chain acyl-CoA dehydrogenase deficiency
极长链酰基辅酶A脱氢酶缺乏症是一种较罕见的脂肪酸代谢障碍疾病，根据起病年龄和临床表现分为三型：心肌病型、肝型、肌病型。心肌病型病情重，病死率高。临床诊断可通过血串联质谱(MS/MS)检测血肉豆蔻烯酰基肉碱(C14:1)水平进行，进一步确诊可通过基因诊断、酶学分析及脂肪酸氧化流量分析。治疗上主要包括避免空腹，减少长链脂肪酸的摄入，补充中链甘油三酯等。
極長鏈酰基輔酶A脫氫酶缺乏癥是一種較罕見的脂肪痠代謝障礙疾病，根據起病年齡和臨床錶現分為三型：心肌病型、肝型、肌病型。心肌病型病情重，病死率高。臨床診斷可通過血串聯質譜(MS/MS)檢測血肉豆蔻烯酰基肉堿(C14:1)水平進行，進一步確診可通過基因診斷、酶學分析及脂肪痠氧化流量分析。治療上主要包括避免空腹，減少長鏈脂肪痠的攝入，補充中鏈甘油三酯等。
겁장련선기보매A탈경매결핍증시일충교한견적지방산대사장애질병，근거기병년령화림상표현분위삼형：심기병형、간형、기병형。심기병형병정중，병사솔고。림상진단가통과혈천련질보(MS/MS)검측혈육두구희선기육감(C14:1)수평진행，진일보학진가통과기인진단、매학분석급지방산양화류량분석。치료상주요포괄피면공복，감소장련지방산적섭입，보충중련감유삼지등。
Very long chain acyl - CoA dehydrogenase deficiency (VLCADD) is a rare recessively inherited disorder of mitochondrial fatty acid β - oxidation. VLCADD is classfied into three types according the onset age and clinical manifestation: cardiomyopathic phenotype, hepatic phenotype and myopathic phenotype. The cardiomyopathic phenotype is most severe resulting in high mortality. The biochemical hallmark of the disease is elevation of C14:1 -camitine detected by tandem mass spectrometry . Enzyme analysis, molecular genetic analysis and fatty acid oxidation flux assay are used to make further diagnostic evaluation. Treatment regimens include avoidance of fasting, restriction of long - chain fat acid and supplementation of medium - chain triglycerides.
