Article topic: Neuronal Storage Diseases Author: Nour Nedal Al-Bzour Editors: Bashar Abualsiba’, Sadeen Eid Reviewer: Ethar Hazaimeh Keywords: Neuronal storage diseases, lysosomal storage diseases, Tay-Sachs, rare diseases, CNS, NSD, LSD, Gaucher, Fabry Introduction Neuronal Storage Diseases (aka Lysosomal Storage Diseases (LSDs)) are chronic rare inherited metabolic diseases. LSDs are caused by a deficiency of the lysosomal enzymes that are needed to catabolize substances in the cells of the central nervous system (CNS)¹. This enzymatic deficiency causes accumulation of the substrates in the lysosome and thus initiates a cascade of cellular events including inflammatory and apoptotic responses. The accumulation and […]
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