[Lysosomal storage diseases - update and new therapeutic options].

摘要: Lysosomal storage diseases represent a group of about 50 genetic disorders. The deficiencies lysosomal and non-lysosomal proteins cause an accumulation compounds which are normally degraded within the lysosome. There currently no therapeutic options to cure patients suffering from disease. Due their progressive nature there is considerable morbidity mortality. Thus, early treatment maintain major systemic functions utmost importance. While so far only symptomatic therapies in use, newly available enzyme replacement offer real causal approach for selected diseases. Many these disorders characterised by pathognomonic eye findings. Therefore, ophthalmological examination provides opportunity non-invasive diagnosis chance initiate treatment. This review intended give survey most common diseases, particularly with regard changes as well illustrate new options.