TY - CHAP M1 - Book, Section TI - Lysosomal Disorders A1 - Giugliani, Roberto A1 - Vairo, Filippo A1 - Beck, Michael A1 - Wraith, Ed A1 - Cowan, Tina A1 - Grabowski, Gregory A2 - Sarafoglou, Kyriakie A2 - Hoffmann, Georg F. A2 - Roth, Karl S. PY - 2017 T2 - Pediatric Endocrinology and Inborn Errors of Metabolism, 2e AB - The lysosomes, named after a Greek term that means “digestive bodies,” were discovered in 1955 by De Duve.1 They are spherical organelles, contained by a single-layer membrane, that are present in all nucleated cells and are important for degradation of macromolecules and homeostasis of the cell. Lysosomes also play an important role in the processes of phagocytosis and antigen presentation, which are necessary for regulation of inflammation and control of autoimmunity. The lysosome–endosomal system is intimately involved in regulation of autophagy, apoptosis, and cell death. An integral part of the intracellular recycling process, lysosomes contain hydrolytic enzymes that digest cell components and degrade complex cellular substrates such as glycoproteins, mucopolysaccharides (glycosaminoglycans), oligosaccharides, and lipids into simpler components during normal cellular turnover. A block in the degradation of these substrates leads to abnormal accumulation of complex macromolecules within lysosomes (Figure 45-1). SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1140323679 ER -