Gaucher disease is caused by mutations in the Gba1 gene encoding an acid β-glucocerebrosidase (GBA1), the lysosomal hydrolase which breaks down glucosylceramide (GlcCer). In Gaucher type 1 disease the accumulation of this simple glycolipid is mainly restricted to tissue phagocyte lysosomes resulting ultimately in hepatomegaly, splenomegaly and osteopenia. Lower residual GBA1 levels leads to neu...

Cytokines; Gaucher disease; Pathogenesis; Bone disease; Pulmonary disease Abstract Gaucher disease (GD) is themost frequently encountered lysosomal storage disease caused by inborndefects of themembrane-bound lysosomal enzyme, acidb-glucosidase or glucocerebrosidase. This defective activity causes an accumulation of glucocerebroside (glucosylceramide) in the lysosomes of cells derived from the ...

In this special issue the relationship of Gaucher disease to malignancy is explored in depth. For many years, multiple reports have attempted to substantiate this relationship, but until recently, the reported studies have not been convincing. Rosenbloom and Weinreb present an up-to-date review on Gaucher disease so the reader will understand the clinical, pathophysiological, and molecular aspe...

Both Gaucher disease patients and heterozygous glucocerebrosidase mutation carriers are at increased risk of Parkinson's disease. Retinal thinning has been reported in early Parkinson's disease. Here we used optical coherence tomography to demonstrate thinning of the retinal ganglion cell layer in Gaucher disease patients and carriers who manifest clinical markers of potential early neurodegene...

Gaucher disease is characterized by storage of glucosylceramide in lysosomes of tissue macrophages as the result of an autosomal recessively inherited deficiency in glucocerebrosidase. Progressive accumulation of these glycolipid-laden Gaucher cells causes a variety of debilitating symptoms. The disease can be effectively treated by costly intravenous infusions with recombinant glucocerebrosida...

BACKGROUND Some, but not all, reports suggest that patients with Gaucher disease are at increased risk of developing malignancies, particularly hematopoietic tumors. The aim of this study was to assess the pattern of Gaucher disease and subsequent malignancies among male veterans admitted to US Veterans Affairs hospitals. METHODS Among 832 294 African American and 3 668 983 white male veteran...

Acute hemorrhagic edema of young children is a rare leukocytoclastic small-vessel vasculitis that was initially described in 1913 by Snow in the United States and in 1936 by Del Carril in Argentina. The condition was also reported by Finkelstein and by Seidlmayer in Germany before the Second World War, and by Lelong in France in 19421,2. The disorder, considered by some the infantile variant of...

A cloned fragment of human glucocerebrosidase cDNA has been used as a probe to study restriction polymorphisms in the region of the gene for Gaucher disease. Variability in the size of fragments produced by digestion with the restriction endonucleases Pvu II and Kpn I was discovered. The Pvu II polymorphism was found to be a very prevalent one with a gene frequency of 0.65 for the Pv1.1- allele...