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