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Lysosomal storage diseases: heterogeneous group of disorders
David A Wenger1, Paola Luzi1, Mohammad A Rafi1
1Department of Neurology, Jefferson Medical College, Philadelphia, Pennsylvanian, USA.
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.
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