RT Book, Section
A1 Schuchman, Edward H.
A1 McGovern, Margaret M.
A1 Desnick, Robert J.
A2 Valle, David L.
A2 Antonarakis, Stylianos
A2 Ballabio, Andrea
A2 Beaudet, Arthur L.
A2 Mitchell, Grant A.
SR Print(0)
ID 1181464917
T1 Niemann-Pick Disease Types A and B: Acid Sphingomyelinase Deficiencies
T2 The Online Metabolic and Molecular Bases of Inherited Disease
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071459969
LK ommbid.mhmedical.com/content.aspx?aid=1181464917
RD 2024/04/18
AB Limited  information  is  available  regarding  the  demographics  of  acid  sphingomyelinase  (ASM)  deficiency.  Two  reports  from  the  Netherlands  and  Australia  examined  the  combined  frequency  of  types  A  and  B  Niemann-Pick  disease  (NPD)  among  the  total  number  of  individuals  diagnosed  with  lysosomal  storage  disorders,  and  estimated  a  birth  rate  of  ~0.5  and  ~0.4  per  100,000,  respectively  (Meikle  et  al,  1999;  Weavers  et  al,  1999).  However,  since  these  numbers  were  based  on  the  number  of  diagnosed  cases  only,  they  are  likely  to  underrepresent  the  true  frequencies  because  less  severe  patients  often  are  not  recognized  by  clinicians,  and  therefore  are  not  referred  to  diagnostic  laboratories.  The  only  population  in  which  DNA-based  screening  has  taken  place  is  the  Ashkenazi  Jewish  community,  where  the  carrier  frequency  of  three  common  mutations  causing  type  A  NPD  was  found  to  be  ~1:80  (Schuchman,  Miranda,1997),  leading  to  an  estimated  birth  rate  of  ~3  per  100,000  for  this  form  of  the  disorder.  However,  due  to  the  widespread  use  of  DNA-based  carrier  testing  and  prenatal  diagnosis  in  this  community,  the  actual  birth  rate  of  type  A  NPD  individuals  in  this  group  is  likely  to  be  lower.