Differential diagnostics for ASMD in patients suspected to have GD
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Objective
- To demonstrate benefits of differential diagnosis within primary diagnostic testing.
- To improve detection rate of potential ASMD, avoid diagnostic delays.
A multicenter, prospective study
DBS testing
- GBA enzyme activity
- ASM enzyme activity
Positive Cases
- Improve detection rate of potential
- ASMD Avoid diagnostic delays
Results
Genetic confirmatory testing done for 5933 cases
| SMPD1 gene sequencing for 1171 cases | GBA gene sequencing for 4762 cases |
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ASMD:GD varies by region
Overall, 1 out of 4 patients with suspected GD suffered from ASMD. |
Overall, 51% of ASMD cases were newborns. |
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<28 days
10-18 years|
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
Abbreviations
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