- Article
- Source: Campus Sanofi
- May 20, 2025
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
- 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.
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.
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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.
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Oliva P, Schwarz M, Mechtler TP, et al. Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease. Mol Genet Metab. 2023;139(1):107563.
MAT-BH-2400114-V1-February 2024