RT Book, Section
A1 Balwani, Manisha
A1 Desnick, Robert J.
A2 Murray, Michael F.
A2 Babyatsky, Mark W.
A2 Giovanni, Monica A.
A2 Alkuraya, Fowzan S.
A2 Stewart, Douglas R.
SR Print(0)
ID 1102702947
T1 Gaucher Disease
T2 Clinical Genomics: Practical Applications in Adult Patient Care
YR 2014
FD 2014
PB McGraw-Hill Education
PP New York, NY
SN 9780071622448
LK accessmedicine.mhmedical.com/content.aspx?aid=1102702947
RD 2024/04/23
AB Disease  summary:Gaucher  disease  is  a  lysosomal  storage  disease  (LSD)  which  results  from  the  deficient  activity  of  the  degradative  enzyme,  acid  β-glucosidase,  and  the  lysosomal  accumulation  of  its  glycosphingolipid  substrate,  glucosylceramide  (GL-1),  primarily  in  the  monocyte-macrophage  system.Three  major  clinical  subtypes  of  Gaucher  disease  have  been  described.  Type  1  is  the  most  common,  and  is  differentiated  from  type  2  and  type  3  by  a  lack  of  primary  central  nervous  system  involvement.Type  1  Gaucher  disease  is  most  common  in  the  Ashkenazi  Jewish  population  (∼1  in  1000  affected;  1  in  15  is  a  carrier)  and  is  characterized  by  hepatosplenomegaly,  pancytopenia,  and  bone  disease.Type  2  Gaucher  disease  is  characterized  by  onset  in  infancy  and  progressive  psychomotor  retardation  with  death  by  age  2.  Individuals  with  type  3  diseases  may  have  onset  in  infancy  with  a  slowly  progressive  neurologic  course  and  may  survive  into  the  third  or  fourth  decade  of  life.Hereditary  basis:Gaucher  disease  (all  subtypes)  is  inherited  as  an  autosomal  recessive  trait.  Heterozygous  carriers  are  asymptomatic,  and  when  both  parents  are  carriers  there  is  a  25%  risk  for  an  affected  child  with  each  pregnancy.Differential  diagnosis  (Table  87-1):LSDs  and  mucopolysaccharidosis:  Hepatosplenomegaly,  which  is  seen  in  Gaucher  disease,  is  present  in  other  lysosomal  storage  diseases  including  types  A  and  B  Niemann-Pick  disease  and  the  mucopolysaccharidoses  types  I,  II,  III,  VI,  and  VII.  The  presence  of  other  clinical  features  as  well  as  biochemical  testing  distinguishes  these.Saposin  C  deficiency:  Patients  with  saposin  C  deficiency  can  present  with  symptoms  similar  to  severe  neuronopathic  Gaucher  disease.  However,  they  have  normal  acid  β-glucosidase  activity.