TY  - CHAP
M1  - Book, Section
TI  - Chapter 574. Lysosomal Storage Disorders
A1  - Anselm, Irina A.
A2  - Rudolph, Colin D.
A2  - Rudolph, Abraham M.
A2  - Lister, George E.
A2  - First, Lewis R.
A2  - Gershon, Anne A.
Y1  - 2011
N1  - 
T2  - Rudolph's Pediatrics, 22e
AB  - Lysosomal  storage  disorders  (LSDs)  comprise  a  group  of  approximately  30  relatively  rare  inherited  diseases  that  are  characterized  by  defective  functioning  of  one  or  several  lysosomal  enzymes.  As  a  result  of  the  enzyme  deficiency,  a  storage  material  (glycogen,  glycoproteins,  shingolipids,  cholesterol)  accumulates  in  various  organs,  including  central  nervous  system  (CNS),  liver,  spleen,  and  kidneys.  While  most  individual  LSDs  are  quite  rare,  as  a  group  their  incidence  is  estimated  to  be  between  1:5000  to  1:10,000.  The  prevalence  of  some  of  LSDs  is  higher  in  certain  populations.  LSDs  are  classified  based  on  the  type  of  the  enzymatic  defect  or  type  of  stored  substrate  product.  Clinical  symptoms  (both  somatic  and  neurological  manifestations)  tend  to  progress  as  the  substrate  accumulates  over  time.  Several  LSDs  with  CNS  involvement  are  discussed  below.  These  disorders  are  further  discussed  in  Chapters  160  and  161.  Diagnosis  is  usually  made  by  enzyme  assay  or  mutation  analysis.  Hematopoietic  stem  cell  transplant  (HSCT)  has  been  used  for  the  treatment  of  several  LSDs  over  the  past  three  decades.  Enzyme  replacement  therapy  (ERT)  became  available  for  the  treatment  of  few  LSDs  in  the  past  15  years.  New  therapies  have  emerged  in  most  recent  years;  small  molecule  drugs  (chaperones)  can  reduce  substrate  production  (substrate  reduction  therapy)  or  increase  residual  enzyme  activity  (enzyme  enhancing  therapy).  Gene  therapy  may  become  available  for  the  treatment  of  some  LSDs  in  the  future  and  is  under  investigation.  
SN  - 
PB  - The McGraw-Hill Companies
CY  - New York, NY
Y2  - 2024/04/25
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=7059147
ER  -