Journal article

Treatable lysosomal storage diseases in the advent of disease-specific therapy

Heidi Peters, Carolyn Ellaway, Kathleen Nicholls, Katrina Reardon, Jeff Szer

Internal Medicine Journal | WILEY | Published : 2020


Lysosomal storage diseases (LSD) comprise a rare and heterogeneous group of nearly 50 heritable metabolic disorders caused by mutations in proteins critical for cellular lysosomal function. Defects in the activity of these proteins in multiple organs leads to progressive intra-lysosomal accumulation of specific substrates, resulting in disruption of cellular functions, extracellular inflammatory responses, tissue damage and organ dysfunction. The classification and clinical presentation of different LSD are dependent on the type of accumulated substrate. Some clinical signs and symptoms are common across multiple LSD, while others are more specific to a particular syndrome. Due to the rarity..

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