溶酶体贮积病为一组大量贮积各种底物的疾病,约有20多种,贮积底物的性质及其组织分布,各种疾病都有其各自的特征,并且是引起临床表现的主要原因。在大多数疾病,异常贮积是继发于溶酶体羟化酶的特异缺陷,正常情况该酶参与贮积底物的分解代谢。该酶的缺陷,通常可用各种合成的或者天然的底物在体外检测得到证实。大多数溶酶体贮积病为常染色体隐性遗传,少数为X连锁隐性遗传。在大多数杂合子中,可见酶活性水平降低,平均为正常对照活性的50%。同一酶缺陷可能与发病年龄、临床严重性、神经受累的程度有关,大多数患病同胞有相似的临床表现。在少数家族,临床症状在患病亲属中可有变异,对患者的亲属进行生物化学研究,有时可发现外观健康的同胞 Lysosomal storage disease is a group of diseases that store a large amount of various substrates. There are about 20 kinds of diseases. The nature of the storage substrate and its tissue distribution, various diseases have their own characteristics, The main reason for performance. In most diseases, abnormal storage is secondary to a specific defect in lysosomal hydroxylase, which normally participates in the catabolism of the storage substrate. Defects of this enzyme can usually be confirmed in vitro by various synthetic or natural substrates. Most lysosomal storage diseases are autosomal recessive, a small number of X-linked recessive inheritance. In most heterozygotes, it is seen that the level of enzyme activity is reduced, averaging 50% of the normal control activity. The same enzyme defect may be related to the age of onset, clinical severity, the degree of nerve involvement, most of the affected sibs have similar clinical manifestations. In a few families, clinical symptoms may vary in affected relatives, biochemical studies of relatives of patients, and sometimes healthy looking siblings may be found