G AUCHER’S DISEASE is an inherited disorder1 of sphingolipid nietabolism caused by a deficiency of glucocerebrosidase.2”-’ The deficiency of this enzyme leads to the accumulation of its substrate, glucocerebroside,3 in reticuloendothelial cells, imparting to them their characteristic appearance. The presence of Gaucher cells was considered pathognomonic of this hereditary disorder until 1966 at...

Gaucher disease is the most common lysosomal storage disorder, with autosomal recessive transmission. The disease is due to glucocerebrosidase enzyme defi ciency, resulting in accumulation of glucocerebroside in all organs. The diagnosis is established by measuring enzyme activity. Among the clinical forms, type 2 is the rarest and has the most dismal prognosis. We present the case of an infant...

Gaucher disease is a relentless progressive multi-systemic disorder caused by deficiency or inadequate function of lysosomal β-glucocerebrosidase. The resultant accumulation of the substrate glucocerebroside causes the organ damage. The classic clinical picture of organomegaly, cytopenia and bone pain or disease should always alert the practitioner and place Gaucher disease into the differentia...

Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase, is characterized by the presence of glucosylcer-amide macrophages, the accumulation of glucosylceramide in lysosomes and the secretion of inflammatory cytokines. However, the connection between this lysosomal storage and inflammation is not clear. Studying macrophages derived from peripheral monocytes from patients with ...

Thin-layer chromatography (TLC) was used to analyze lipids of eight spleens of patients with Gaucher’s disease. Four non-Gaucher spleens were also analyzed. Phospholipid concentrations are not increased in Gaucher spleens, while several classes of neutral lipids are moderately increased. Acid hydrolysis followed by hexose determination was applied to total lipids and to separated fractions. Spe...

Gaucher disease is an autosomal recessive lysosomal storage disorder caused by the deficient activity of glucocerebrosidase. Accumulation of glucosylceramide, primarily in the lysosomes of cells of the reticuloendothelial system, leads to hepatosplenomegaly, anemia and skeletal lesions in type I disease, and neurologic manifestations in types II and III disease. We report herein the identificat...

The lysosomal enzyme glucocerebrosidase, encoded by the glucocerebrosidase gene, is involved in the breakdown of glucocerebroside into glucose and ceramide. Lysosomal build-up of the substrate glucocerebroside occurs in cells of the reticulo-endothelial system in patients with Gaucher disease, a rare lysosomal storage disorder caused by the recessively inherited deficiency of glucocerebrosidase...

Mutations in GBA, the gene encoding glucocerebrosidase, the enzyme deficient in Gaucher disease, are common risk factors for Parkinson disease, as patients with Parkinson disease are over five times more likely to carry GBA mutations than healthy controls. Patients with GBA mutations generally have an earlier onset of Parkinson disease and more cognitive impairment than those without GBA mutati...