溶酶体贮积症：一组异质性疾病。
Lysosomal storage diseases: heterogeneous group of disorders.
机构信息
Department of Neurology, Jefferson Medical College, Philadelphia, Pennsylvanian, USA.
出版信息
Bioimpacts. 2013;3(4):145-7. doi: 10.5681/bi.2013.029. Epub 2013 Dec 2.
Abstract
The name of lysosomal storage diseases stems from the fact that in this category of disorders specific undegraded materials are stored in the lysosomes. This is usually caused by a lysosomal enzyme deficiency and leads to a cascade of pathological outcomes. Apart from deficiency of lysosomal enzymes, lysosomal storage diseases also include deficiencies in proteins necessary for enzyme functioning, proteins needed for post-translational modification of these enzymes and proteins required for export of certain compounds from the lysosomes.
摘要
溶酶体贮积症的名称源于这样一个事实，即在这一类疾病中，特定的未降解物质储存在溶酶体中。这通常是由于溶酶体酶缺乏引起的，导致一系列病理后果。除了溶酶体酶缺乏外，溶酶体贮积症还包括酶功能所必需的蛋白质、这些酶的翻译后修饰所需的蛋白质以及某些化合物从溶酶体输出所需的蛋白质的缺乏。
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