Review article
https://doi.org/10.26800/LV-146-supl1-23
Lysosomal storage disorders: a modern perspective
Danijela Petković Ramadža
*
Tamara Žigman
Ivo Barić
* Corresponding author.
Abstract
Lysosomal storage disorders comprise a group of about 70 hereditary diseases that arise due to lysosome dysfunction and the consequent accumulation of substrates that initiates secondary pathological processes. Clinical presentation is very heterogeneous and depends on the type of disorder and residual enzyme activity. Most of disorders are progressive and multisystem diseases, often with a neurodegenerative course. Although individual diseases are very rare, the overall incidence of lysosomal disorders is about 1:5000 live births. Along with hematopoietic stem cell transplantation, which was the first etiological therapy, during the last 30 years, enzyme replacement therapy and other types of pharmacological treatment have gradually become available for
numerous lysosomal storage diseases. However, despite the significant development of therapeutic options, there is still no specific treatment for many lysosmal disorders. In addition, there is the need for additional improvements of existing and development of new therapies for treatable diseases, with the goal to improve the patient outcomes. Novel scientific knowledge about the roles of lysosomes in the control of various cellular metabolic processes and the complex pathogenesis of lysosomal storage diseases is crucial for the development of new and more efficient therapeutic approaches. In the recent years, we are witnessing development of gene therapy and
the beginning of its application in certain lysosomal diseases. Due to the significant delay between the symptom onset and established diagnosis, which leads to poorer therapeutic efficiency, some treatable diseases from this group have been introduced into the newborn screening programs in several countries. Along with a brief reminder of the clinical signs of lysosomal storage diseases, clues when to suspect and how to diagnose them, we will briefly review the current therapeutic options.
Keywords
LYSOSOMAL STORAGE DISEASES; CLINICAL SIGNS; LYSOSOME; ENZYME REPLACEMENT THERAPY; GENE THERAPY
Hrčak ID:
315837
URI
Publication date:
11.4.2024.
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