Early Diagnosis of Gaucher Disease and ASMD in Sardinia: the “ICHNOS” Project

Perra, Daniela;Zizzo, Carmela;Mulas, Olga

Co-prime

;Podda, Luigi;Longu, Francesco;Fozza, Claudio;Palmas, Angelo;Curreli, Luigi;Costa, Alessandro

Co-prime

;Cappellini, Maria Domenica;Caocci, Giovanni

Last

2026-01-01

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Abstract

Gaucher disease (GD) and Acid Sphingomyelinase Deficiency (ASMD) are autosomal recessive lysosomal storage disorders (LSDs) caused by biallelic pathogenic variants in GBA1 and SMPD1, respectively. The resulting enzymatic defects lead to progressive accumulation of undegraded sphingolipids within macrophages and parenchymal cells, producing chronic, multisystemic, and often irreversible organ damage.