The management of lysosomal disorders

摘要

Lysosomal storage disorders (LSDs) are a group of genetic disorders resulting from defective lysosomal metabolism/export of a range of naturally occurring compounds. Although individually rare, as a group they constitute a significant burden on society and are expensive to manage.In addition to general palliative care, treatment options for patients with LSDs now include haematopoetic stem cell therapy (HSCT), enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). The exact treatment regimen preferred depends upon the disease, the age at presentation and the presence or absence of central nervous system involvement. As therapy is likely to be most successful at an early stage in the natural history of a disorder, there is greater pressure upon clinicians to diagnose disorders as early as possible. As more treatments become available, newborn screening for LSDs may be the next essential development for this group of conditions.