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The neck, Thoracic Inlet and Outlet, the Axilla and Chest Wall, the Ribs, Sternum and Clavicles.
Published in Fred W Wright, Radiology of the Chest and Related Conditions, 2022
Gaucher's disease - an infiltrative disorder of the bone marrow is due to a deficiency of the enzyme glucocerebroside, and gives rise to large histiocytes which engulf kerasin. The ribs and vertebrae may be porotic and expanded with fractures and extra-skeletal masses. Schmorl's nodes and cartilage necrosis and some bone sclerosis may occur as a result of infarction. Splenic and hepatic enlargement is usually marked. Children with severe disease may be treated with marrow transplantation.
Diseases of the Nervous System
Published in George Feuer, Felix A. de la Iglesia, Molecular Biochemistry of Human Disease, 2020
George Feuer, Felix A. de la Iglesia
One precursor of glucocerebrosides is globoside, N-acetyl-galactosaminyl-galactosyl-galactosyl-ceramide which occurs in great amounts in the stroma of erythrocytes. Leukoytesare other likely sources of glucocerebroside; they contain glycolipids and the precursor or intermediate ceramide lactoside and glucocerebroside occur as predominant lipid constituents. Leukocyte breakdown provides probably most glycolipids. The turnover of gangliosides is fairly rapid in infancy and slows down later in life. In the adult type of Gaucher’s disease, there is probably some glucocerebrosidase activity in the brain which metabolizes the glucocerebroside arising from leukocyte gangliosides during the neonatal period. Thus, the residual enzyme activity prevents the development of abnormalities in the central nervous system.
Fever In Inherited and Metabolic Disorders
Published in Benedict Isaac, Serge Kernbaum, Michael Burke, Unexplained Fever, 2019
This is the most common, inherited metabolic disorder of glycolipid metabolism. Excessive quantities of glucocerebroside accumulate in the cells of the reticuloendothelial system (Gaucher’s cells), due to an inherited abnormal activity of glucocerebrosidase (an intralysosomal enzyme), which catalyzes the hydrolytic cleavage of glucose from glucocerebroside. This abnormal recessive trait results in hepatosplenomegaly and bone lesions, and in certain forms involvement of the central nervous system.
The budget impact of enzyme replacement therapy in type 1 Gaucher disease in the United States
Published in Journal of Medical Economics, 2022
Sepehr Farahbakhshian, Timothy J. Inocencio, Gregory Poorman, Ekaterina Wright, Ravi Ramesh Pathak, Michael Bullano
Patients with GD have a lysosomal enzyme deficiency resulting in a buildup of glucocerebroside1. For patients with symptomatic disease, long-term treatment with either ERT or substrate reduction therapy is needed8. ERT provides the enzymes needed to break down glucocerebrosides whereas substrate reduction therapy blocks the production of glucocerebrosides. Currently, several formulations of ERT are administered intravenously, usually once every 2 weeks. The three commercially available formulations of ERTs are not biosimilar; similarities and dissimilarities between imiglucerase, velaglucerase alfa, and taliglucerase alfa have been presented earlier22. Of the available ERTs, only velaglucerase alfa is produced by gene activation via a human cell line22. The resulting protein produced is identical in amino acid sequence to the naturally occurring enzyme. Differences in glycosylation patterns and manufacturing process from a human cell line may explain the lower immunogenicity of velaglucerase alfa, contributing to its improved efficacy22. More recently, studies have shown a steeper and faster decrease of lyso-Gb1 levels, a key GD-specific biomarker in velaglucerase alfa as compared to other ERTs6.
Multiple intracranial aneurysms in a patient with type I Gaucher disease: a case report and literature review
Published in British Journal of Neurosurgery, 2020
Matthew R. Reynolds, Daniel M. Heiferman, Andrew B. Boucher, Brian M. Howard, Daniel L. Barrow, Jacques E. Dion
Gaucher disease (GD), the most common lysosomal storage disorder, is caused by an autosomal recessive defect in the glucocerebrosidase gene. This results in abnormal function of its gene product, beta-glucocerebrosidase, with subsequent accumulation of glucosylceramide within reticuloendothelial cells. The clinical consequences of GD patients have been further classified into non-neuronopathic (type 1) and neuronopathic (types 2 and 3) forms. Type 1 GD manifests with signs and symptoms related to hepatosplenomegaly, anaemia, haematological malignancies, bleeding diatheses, pancytopenia, skeletal abnormalities, growth retardation, and pulmonary dysfunction. GD type 2 and 3 patients exhibit symptoms related to neuroinflammatory changes within the central nervous system (CNS), including neurological impairment, oculomotor abnormalities, brainstem involvement, movement disorders, seizures, and dementia, as well as visceral symptoms. While GD is effectively diagnosed by enzyme testing, treatment options—including lifelong enzyme replacement therapy—are aimed at reducing glucocerebroside storage burden, symptomatic relief, and prevention of irreversible multi-organ damage.
Chronic interstitial lung diseases in children: diagnosis approaches
Published in Expert Review of Respiratory Medicine, 2018
Nadia Nathan, Laura Berdah, Keren Borensztajn, Annick Clement
Several metabolic disorders can be associated with ILD. Among them, Gaucher’s disease, an autosomal recessive disease is the most common lysosomal storage diseases. It is caused by a genetic deficiency of the gluco-cerebrosidase lysosomal enzyme that catalyzes the breakdown of glucocerebroside, a cell membrane constituent of red and white blood cells. Niemann-Pick diseases (A, B, C) are rare genetic diseases primarily due to deficiency of sphingomyelinase resulting in the accumulation of sphingomyelin within lysosomes in the macrophage-monocyte phagocyte systems of multiple organs, mainly the brain, spleen, liver, lung, and bone marrow. Histology demonstrates lipid laden macrophages in the marrow, as well as ‘sea-blue histiocytes’ on pathology [48]. Hermansky-Pudlak syndrome is a heterogeneous group of autosomal recessive disorders associated with accumulation of a ceroid-like substance in lysosomes of a variety of tissues. It is characterized by albinism, bleeding tendency associated to poor platelet aggregation, and systemic complications associated to lysosomal dysfunction [49].