摘要
孤独症谱系障碍是一组神经发育障碍性疾病,导致社交障碍、交流困难及行为异常,病因复杂,已知多种遗传和非遗传因素可导致多种类型的孤独症表现。左旋肉碱(左卡尼汀)是一种水溶性维生素亚类,结构类似氨基酸,参与多种物质代谢,主要功能是将长链脂肪酸从胞浆转移到线粒体内质网进行β-氧化代谢。肉碱缺乏症可导致孤独症谱系障碍等精神行为异常,一些患者发生心脏、骨骼肌、脑、肝脏等多器官损伤,严重者猝死。正常情况下,机体通过饮食摄入、内源合成、肾脏排泄与重吸收来保证左卡尼汀的稳态。肉碱在机体的内源性合成通过线粒体内四步酶促反应完成,三甲基赖氨酸羟化酶是肉碱合成中的一个关键酶。三甲基赖氨酸羟化酶缺乏症是一种X连锁遗传病,引起肉碱合成障碍,是导致孤独症谱系障碍病因之一。早期诊断,早期补充左卡尼汀,是改善三甲基赖氨酸羟化酶缺乏症所致孤独症患者预后的关键。
Autism spectrum disorder is a developmental disability that can cause significant social,communication and behavioral challenges.There are many genetic or non-genetic causes for multiple types of autism spectrum disorders.Levocarnitine is a water soluble vitamin with the structure similar to amino acid.It plays essential roles in the metabolism with the main function being the transport of long-chain fatty acids from the cytosol to the mitochondrial matrix forβ-oxidation.Carnitine deficiency can lead to mental and behavior problems such as autism spectrum disorders.In some patients,multiple organs such as heart,skeletal muscle,brain and liver were injured.Sudden death occurred in severe cases.Carnitine homeostasis normally is maintained through dietary intake,endogenous synthesis,renal excretion and reabsorption.The endogenous synthesis of levocarnitine is completed by four-step enzymatic reactions in mitochondria.Trimethyllysine hydroxylase is a key enzyme in carnitine synthesis.Trimethyllysine hydroxylase deficiency is an X-linked inherited disorder,which causes carnitine synthesis disorder.It is one of the causes of autism spectrum disorders.Early diagnosis and levocarnitine supplementation are the keys to improve the prognosis of patients with autism caused by trimethyllysine hydroxylase deficiency.
作者
刘玉鹏
秦炯
LIU Yu-peng;QIN Jiong(Department of Pediatrics,Peking University People’s Hospital,Beijing100044,China)
出处
《中国实用儿科杂志》
CSCD
北大核心
2020年第7期510-513,共4页
Chinese Journal of Practical Pediatrics
关键词
左卡尼汀
肉碱缺乏症
孤独症谱系障碍
三甲基赖氨酸羟化酶
levocarnitine
carnitine deficiency
autism spectrum disorders
trimethyllysine hydroxylase deficiency
