Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders.

ABSTRACT: The lysosomal storage diseases chronic visceral acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are both macrophage storage disorders with overlapping clinical manifestations. We compared cross-sectional data on visceral, hematological, and biochemical manifestations of untreated adult patients with chronic visceral ASMD (n = 19) and GD1 (n = 85). Spleen volume, liver volume, and bone marrow fat fraction did not significantly differ between the two disease groups (p >0.05 for all). Chitotriosidase activity was higher in GD1 (GD1: median 30 940 nmol/(mL.h), range 513-201 352, ASMD: median 1693 nmol/(mL.h), range 326-6620, p <0.001), whereas platelet levels were lower (GD1: median 102 10⁹/L, range 16-726, ASMD: median 154 10

SUBMITTER: Eskes ECB 

PROVIDER: S-EPMC11558470 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature