Author/Authors :
Wenger، David A. نويسنده Department of Neurology, Jefferson Medical College, Philadelphia, Pennsylvanian, USA , , Luzi، Paola نويسنده Department of Neurology, Jefferson Medical College, Philadelphia, Pennsylvanian, USA , , Rafi، Mohammad A. نويسنده ,
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.
