Abstract
The lysosome, an intracellular organelle responsible for the intracellular sorting, recycling, and digestion of organic molecules, was first described 50 years ago by Christian de Duve.1 All known lysosomal storage diseases (LSD) are single gene defects and with few exceptions are autosomal recessive in inheritance. Loss of functional activity of lysosomal enzymes results in accumulation of substrates, such as glycoproteins or mucopolysaccharides (MPS).2 The clinical manifestations of LSD vary depending on the specific enzymatic deficiency, level of residual activity, and site of substrate accumulation (Tables I and II).
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