近五年来,对于引起中枢神经系(CNS)损害之遗传性代谢疾病的研究取得了显著之进展,概述如下: 脂质积累病在脂质积累病中现已明确:积蓄之类脂质来自各种器官和循环中之细胞,其转换率正常,引起类脂质积蓄之原因是由于组织及器官中缺乏处理类脂质的分解酶。现将10种脂类积累病之主要症候,积蓄之主要类脂质及其酶缺陷列于表1。 In the past five years, significant progress has been made in the study of hereditary metabolic diseases that cause damage to the central nervous system (CNS), summarized as follows: Lipid accumulation disease is now clear in lipid accumulation disease: The organs and circulatory cells, the conversion rate of normal, causing lipid-like accumulation of the reason is due to the organization and organs in the lack of treatment of lipid-like enzymes. Now 10 kinds of lipids accumulate the main symptoms of disease, the main type of accumulation of lipid and its enzyme defects are listed in Table 1.