Brady R O
Ann Intern Med. 1975 Feb;82(2):257-61. doi: 10.7326/0003-4819-82-2-257.
The nature of the enzymatic defect is now well established in ten inherited disorders of lipid metabolism. This information has provided for the development of facile, sensitive tests using readily available materials such as washed leukocytes or cultured skin fibroblasts for the diagnosis of these disorders; the detection of heterozygous carriers of these traits; and the monitoring of pregnancies at risk for any of these conditions. Recent investigations of enzyme replacement therapy have shown great promise for the treatment of patients with Fabry's disease and those with the adult form of Gaucher's disease. Additional procedures must be developed for successful enzyme replacement in patients where the central nervous system is damaged by the accumulation of lipids.
目前，在十种遗传性脂质代谢紊乱疾病中，酶缺陷的本质已得到充分证实。这些信息促使人们利用易于获取的材料，如洗涤过的白细胞或培养的皮肤成纤维细胞，开发出简便、灵敏的检测方法，用于诊断这些疾病；检测这些性状的杂合子携带者；以及监测有患这些疾病风险的妊娠情况。最近对酶替代疗法的研究表明，对于治疗法布里病患者和成年型戈谢病患者具有很大的前景。对于中枢神经系统因脂质蓄积而受损的患者，必须开发其他程序以实现成功的酶替代。
