Endocrine Abstracts

Gaucher disease (GD) is autosomal recessive lysosomal storage disorder caused by the deficiency of glucocerebrosidase with consequent massive acumulation of lipid-laden macrophages in various tissues. Estimated life expectancy is about 9 years shorter than for the reference population. Mortality due to macrovascular diseases is higher, and probably associated with metabolic abnormalities found in GD type 1 patients, including decreases in serum adiponectin levels. Because adip...

Introduction: Leptin is an adipocyte-secreted hormone that plays a key part in energy homeostasis but also regulates reproductive, neuroendocrine, immune, and metabolic functions. Inflammatory cytokines may affect leptin secretion. Gaucher disease (GD) is autosomal recessive lysosomal storage disorder caused by the deficiency of enzyme glucocerebrosidase (GCD) with consequent massive acumulation of lipid-laden macrophages in various tissues. The pathology of Gaucher disease pr...