Differential Diagnostics for ASMD in Patients Suspected to have GD
Objective
To demonstrate
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of differential diagnosis |
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Primary diagnostic testing |
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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 |
Genetic confirmatory testing |
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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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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Color by:
Gene-ID |
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 GBA |
 Adults (>18 years) |
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 GBA |
Children (below 10 years) |
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 GBA |
Children/adolescents (10–18 years) |
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 GBA |
Newborns |
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 SMPD1 |
Adults (>18 years) |
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 SMPD1 |
Children (below 10 years) |
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 SMPD1 |
Children/adolescents (10–18 years) |
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 SMPD1 |
Newborns |
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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.
