Lysosomal storage disorders

Abstract Lysosomes are cytoplasmic organelles that play a major role in cellular metabolic salvage, necessary for cellular homeostasis. Besides, degrading several macromolecules in metabolic salvage process, lysosomes also involve in several cellular processes e.g. cell apoptosis and intracellular signaling. Lysosomal storage disorder (LSD) is a group of inherited metabolic disorders, which can present at any age from prenatal to adult. Pathology/pathophysiology usually engages several organ systems. Majority of diseases in this group involve neurological system causing neurodegenerative manifestation. Biomarkers are not only available but also useful for disease screening and monitoring. Diagnosis should be confirmed by enzyme analysis and/or molecular analysis. Although treatment is available in some diseases, the outcomes are not favorable in selected patients, especially when present with neurological symptoms. Understanding the complexity of LSD is important for patients' care and development of new treatment. Appropriate genetic counseling should be provided to every patient.