纯合子β-地中海贫血患儿的血清肉毒碱浓度:肉毒碱可能的新作用  

Serum carnitine levels in patients with homozygous beta thalassemia: A possible new role for carnitine?

作　　者：Tsagris V. Liapi-Adamidou G. 高蕊 

机构地区：[1]30 Areopoleos Street, 12462 Dasos Xaidariou, Athens, Greece

出　　处：《世界核心医学期刊文摘（儿科学分册）》2005年第9期36-36,共1页

摘　　要：Carnitine (β -hydroxy-γ -trimethylaminobutyric acid) facilitates the transfer of activated long-chain fatty acids from the cytoplasm to the mitochondria, the site of their β -oxidation. Carnitine deficiency results in a reduced usage of fatty acids in energy production and therefore the appearance of clinical symptoms such asmyalgia and muscle weakness. In the present study, serum carnitine levels were measured in 45 children and 20 adults with homozygous beta thalassemia. A decrease in serum carnitine levels (total, free and acyl) was found, without any evidence of disorder in the process of mitochondrial β -oxidation. The possible cause of this finding could be related to a reduced hepatic carnitine biosynthesis. Conclusion: In patients with homozygous beta thalassemia, the reduction of serum carnitine levels might play an important role in the appearance of muscular dysfunction. It is possible that l -carnitine administration in these patients might improve or even resolve the aforementioned symptom.Carnitine (β -hydroxy-γ -trimethylaminobutyric acid) facilitates the transfer of activated long-chain fatty acids from the cytoplasm to the mitochondria, the site of their β -oxidation. Carnitine deficiency results in a reduced usage of fatty acids in energy production and therefore the appearance of clinical symptoms such asmyalgia and muscle weakness. In the present study, serum carnitine levels were measured in 45 children and 20 adults with homozygous beta thalassemia. A decrease in serum carnitine levels (total, free and acyl) was found, without any evidence of disorder in the process of mitochondrial β -oxidation. The possible cause of this finding could be related to a reduced hepatic carnitine biosynthesis. Conclusion: In patients with homozygous beta thalassemia, the reduction of serum carnitine levels might play an important role in the appearance of muscular dysfunction. It is possible that l -carnitine administration in these patients might improve or even resolve the aforementioned symptom.

关 键 词：Β-地中海贫血 肉毒碱 纯合子 长链脂肪酸 肌无力 能量产生 肌痛 β-氧化 肌肉功能 临床症状 

分 类 号：R725.5[医药卫生—儿科]