Canavan病属常染色体隐性遗传病,是由于乙酰天门冬氨酸酶编码基因缺陷导致乙酰天门冬氨酸酶活性受损,乙酰天门冬氨酸转化为乙酰CoA和天门冬氨酸的过程障碍,大量乙酰天门冬氨酸在血中蓄积,引起脑白质变性为主的疾病[1]。Myrtelle Canavan[2]于1931年首先报道此病,目前尚无有效治疗方法[3]。患儿苏某,男,3月,以“四肢间断抖动2月余,对声音无 Canavan’s disease is an autosomal recessive disease caused by the impairment of acetyl-aspartate activity due to defects in the gene encoding acetyl aspartate enzyme, the process disorder of conversion of acetyl aspartate to acetyl-CoA and aspartate, A large number of acetyl aspartate accumulation in the blood, causing degeneration of white matter mainly disease [1]. Myrtelle Canavan [2] first reported the disease in 1931, there is no effective treatment [3]. Children Sumou, male, in March to ”limbs jitter more than two months, no sound