BACKGROUND Gaucher disease is the first lysosomal storage disease for which specific therapy became available. Over 4800 patients have been treated with enzyme replacement therapy. Analysis of Gaucher disease registry data has outlined the clinical heterogeneity of the disease and the different responses to treatment from patient to patient, and for different organs. This variability in clinica...

Gaucher disease (glucocerebrosidase deficiency) is characterized by massive accumulation of lipid-laden macrophages in various tissues. Patients with Gaucher disease show a hitherto unexplained increase in hepatic glucose output. Because adiponectin is thought to influence hepatic glucose output, we studied its serum concentration in a cohort of patients with Gaucher disease. Serum adiponectin ...

Patients with Gaucher disease, perhaps due to chronic storage of glycolipids, apparently harbor a subclinical or underlying inflammation. Quantification of a baseline inflammatory profile in patients with Gaucher disease is more impressive when compared with that of matched healthy controls in a systematic, automated fashion. A mean of 16 healthy controls was generated for each of 50 patients w...

Gaucher disease is a lysosomal storage disorder caused by the deficiency of the lysosomal hydrolase glucocerebrosidase (β-glucocerebrosidase or acid β-D-glucosidase, GBA, EC 3.2.1.45). The deficiency of GBA leads to the accumulation of glucosylceramide (glucocerebroside) in the lysosomes of cells in the monocyte/ macrophage system. In Gaucher disease, glycosphingolipid-engorged cells displace n...

Eliglustat is a recently approved oral therapy in the United States and Europe for adults with Gaucher disease type 1 who are CYP2D6 extensive, intermediate, or poor metabolizers (> 90% of patients) that has been shown to decrease spleen and liver volume and increase hemoglobin concentrations and platelet counts in untreated adults with Gaucher disease type 1 and maintain these parameters in pa...

Type I Gaucher disease, the subject of this article, was initially reported by Gaucher' in 1882 as a non-leukaemic splenic epithelioma. The biochemical defect, an autosomal recessively inherited lysosomal glucocerebrosidase enzyme deficiency, was delineated in 1965,2 3 and more recently the full length coding DNA sequence has been cloned and characterised.4 Gaucher disease is conventionally cla...

Gaucher disease is a sphingolipidosis that leads to an accumulation of glucosylceramide. The objective of this study was to develop a methodology, based on the extraction, purification and quantification of glucosylceramide from blood plasma, for use in clinical research laboratories. Comparison of the glucosylceramide content in plasma from Gaucher disease patients, submitted to enzyme replace...

Gaucher disease is a rare inborn error of glycosphingolipid metabolism due to deficiency of lysosomal acid β-glucocerebrosidase; the condition has totemic significance for the development of orphan drugs. A designer therapy, which harnesses the mannose receptor to complement the functional defect in macrophages, ameliorates the principal clinical manifestations in hematopoietic bone marrow and ...

A wandering spleen is a rare condition characterized by the malposition of the spleen due to laxity or absence of its supporting ligaments. Although Gaucher disease generally presents with massive splenomegaly, which one of the predisposing causes of a wandering spleen, literature shows only one report of a wandering spleen in a child with Gaucher disease. In this case presentation, a 13-year-o...

An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase mutations in probands with sporadic Parkinson disease. Using a different and complementary approach, we describe 10 unrelated families of subjects with Gaucher disease where obligate or confirmed c...