Ayse Kilic, Merve Emecen Sanli, Ekin Ozsaydı Aktasoglu, Sabire Gokalp, Gürsel Biberoğlu, Aslı Inci, Ilyas Okur, Fatih Suheyl Ezgu, Leyla Tumer
OBJECTIVES: Gaucher Disease (GD) is a lysosomal storage disease caused by glucocerebrosidase (GCase) enzyme deficiency. Gaucher cells transformed from the macrophages by progressive sphingolipid accumulation and infiltrate bone marrow, spleen, liver, and other organs. The accumulation of substrate causes inflammation, compromised cellular homeostasis, and disturbed autophagy. It has been hypothesized that this proinflammatory state of GD leads cytokines and chemokines release. As a result of inflammatory process, the cellular dysfunction caused by disruption of cellular signaling, organelle dysfunction, or autoimmune antibodies may affect endocrine profile of GD patients such as hormone levels, lipid profile, and bone mineral density status...
April 17, 2024: Journal of Pediatric Endocrinology & Metabolism: JPEM