- Article
- Source: Campus Sanofi
- 20 May 2025
Differential diagnostics for ASMD in patients suspected to have GD
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Objective
To demonstrate
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✓ Improve detection rate of potential
✓ ASMD Avoid diagnostic delays
A multicenter, prospective study
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DBS testing
✓ GBA enzyme activity
✓ ASM enzyme activity
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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.
Most of the cases with ASMD from the Middle East were newborns and with GD were adults.
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.
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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