Objective

To demonstrate

of differential diagnosis Primary diagnostic testing Improve detection rate of potential
ASMD  
Avoid diagnostic delays

  A multicenter, prospective study

DBS testing
GBA enzyme activity
ASM enzyme activity
Genetic confirmatory testing

 Results

Genetic confirmatory testing done for 5933 cases
SMPD1 gene sequencing for 1171 cases GBA gene sequencing for 4762 cases

ASMD:GD varies by region

Overall, 1 out of 4 patients with suspected GD suffered from ASMD.

  Overall, 51% of ASMD cases were newborns.

 <28 days  28 days to <10 years
 10-18 years >18 yeras

 

  5933 symptomatic cases showed decreased enzyme activities

 

  227 distinct SMPD1 sequence variants identified

 

  10 more frequent variants

 

  Most of the cases with ASMD from the Middle East were newborns and with GD were adults.

Color by:
Gene-ID Age group

 GBA  Adults (>18 years)
 GBA  Children (below 10 years)
 GBA  Children/adolescents (10–18 years)
 GBA  Newborns
 SMPD1  Adults (>18 years)
 SMPD1 Children (below 10 years)
SMPD1  Children/adolescents (10–18 years)
 SMPD1  Newborns
 Higher number of confirmed ASMD patients in Pakistan, Iraq, Turkey, and Iran

Egypt had the highest number of GD cases followed by Turkey, while Iraq had the highest number of ASMD cases.

  Conclusion

ASM: Acid sphingomyelinase; ASMD: Acid sphingomyelinase deficiency; DBS: Dried blood spots; GBA: Acid- -glucocerebrosidase; GD: Gaucher disease; KSA: Kingdom of Saudi Arabia; SMPD1: Sphingomyelin phosphodiesterase 1; UAE: United Arab Emirates.

MAT-BH-2400114-V1-February 2024