RT Book, Section
A1 Hopkin, Robert J.
A1 Grabowski, Gregory A.
A2 Kasper, Dennis
A2 Fauci, Anthony
A2 Hauser, Stephen
A2 Longo, Dan
A2 Jameson, J. Larry
A2 Loscalzo, Joseph
SR Print(0)
ID 1120817672
T1 Lysosomal Storage Diseases
T2 Harrison's Principles of Internal Medicine, 19e
YR 2014
FD 2014
PB McGraw-Hill Education
PP New York, NY
SN 9780071802154
LK accesspharmacy.mhmedical.com/content.aspx?aid=1120817672
RD 2022/07/07
AB Lysosomes  are  heterogeneous  subcellular  organelles  containing  specific  hydrolyses  that  allow  selective  processing  or  degradation  of  proteins,  nucleic  acids,  carbohydrates,  and  lipids.  There  are  more  than  40  different  lysosomal  storage  diseases  (LSDs),  classified  according  to  the  nature  of  the  stored  material  (Table  432e-1).  Several  of  the  most  prevalent  disorders  are  reviewed  here:  Tay-Sachs  disease,  Fabry  disease,  Gaucher  disease,  Niemann-Pick  disease,  lysosomal  acid  lipase  deficiencies,  the  mucopolysaccharidoses,  and  Pompe  disease.  LSDs  should  be  considered  in  the  differential  diagnosis  of  patients  with  neurologic,  renal,  or  muscular  degeneration  and/or  unexplained  hepatomegaly,  splenomegaly,  cardiomyopathy,  or  skeletal  dysplasias  and  deformations.  Physical  findings  are  disease  specific,  and  enzyme  assays  or  genetic  testing  can  be  used  to  make  a  definitive  diagnosis.  Although  the  nosology  of  LSDs  segregates  the  variants  into  distinct  phenotypes,  these  are  heuristic;  in  the  clinic,  each  disease  exhibits—to  some  degree—a  continuous  spectrum  of  manifestations,  from  severe  to  attenuated  variants.