RT Book, Section
A1 Clark, Gary D.
A2 Kline, Mark W.
SR Print(0)
ID 1182924394
T1 Batten Diseases and Lipidoses
T2 Rudolph's Pediatrics, 23e
YR 2018
FD 2018
PB McGraw-Hill Education
PP New York, NY
SN 9781259588594
LK accesspediatrics.mhmedical.com/content.aspx?aid=1182924394
RD 2024/04/23
AB Disorders  of  lysosomes  result  from  a  lack  of  enzymes  or  critical  proteins  involved  in  lysosomal  function.  The  lysosomes  act  as  the  recycle  and  incinerator  systems  of  our  cells.  The  lack  of  an  enzyme  or  critical  protein  can  lead  to  disturbed  cellular  function  resulting  from  accumulation  of  substrate  (cellular  garbage  or  accumulation  of  aberrant  protein)  or  from  altered  cellular  metabolism.  These  usually  lead  to  cell  death,  but  the  timing  differs  depending  on  the  disease.  The  Batten  diseases,  neuronal  ceroid  lipofuscinoses,  are  perhaps  the  most  extreme  of  these  disorders  leading  to  early  cell  death  and  degeneration  of  the  central  nervous  system  (CNS).  The  fact  that  the  CNS  is  predominately  affected  by  these  disorders  probably  reflects  the  lack  of  regenerative  capability  in  this  organ.