遗传性鞘脂贮积症是鞘脂降解所需酸性水解酶的基因突变造成酶缺陷所致。临床表现为进行性神经系统退行性变,智力及运动功能减退,还可伴肝脾肿大及骨骼改变。国内有黑朦性痴呆(Tay-Sachs病,TSD)、Gaucher氏病、Niemann-Pick氏病的个别报道,但皆未经酶活性测定证实。我们作了正常血 Hereditary sphingolipidosis is caused by an enzyme defect caused by genetic mutations in the acid hydrolase required for sphingolipid degradation. Clinical manifestations of progressive degenerative nervous system changes, mental and motor dysfunction, but also with hepatosplenomegaly and bone changes. Domestic reports of Tay-Sachs disease (TSD), Gaucher’s disease, and Niemann-Pick’s disease were reported individually, but none were confirmed by enzymatic activity. We made normal blood