RT Book, Section
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.
SR Print(0)
ID 1140323679
T1 Lysosomal Disorders
T2 Pediatric Endocrinology and Inborn Errors of Metabolism, 2e
YR 2017
FD 2017
PB McGraw-Hill Education
PP New York, NY
SN 9780071773140
LK accesspediatrics.mhmedical.com/content.aspx?aid=1140323679
RD 2024/04/18
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).