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Title: :  A review on GAUCHER'S DISEASE
PaperId: :  23513
Published in:   International Journal Of Advance Research And Innovative Ideas In Education
Publisher:   IJARIIE
e-ISSN:   2395-4396
Volume/Issue:    Volume 10 Issue 2 2024
DUI:    16.0415/IJARIIE-23513
Licence: :   IJARIIE is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.

Author NameAuthor Institute
Gurgude Harshada Nanasaheb Pravara rural education society college of pharmacy women's nashik

Abstract

B Pharmacy
lysosomal enzymes, GBA gene, crumpled tissue paper, 4-methylumbilliferyl-beta-glucoside, Enzyme Replacement Therapy,glucocerebrosidase
A uncommon genetic illness that is autosomal recessive is Gaucher disease (GD, ORPHA355). It is brought on by a lack of glucocerebrosidase, a lysosomal enzyme, which causes an accumulation of glucosylceramide, its substrate, in macrophages. Its incidence ranges from roughly 1/40,000 to 1/60,000 births in the general population, and it rises to 1/800 in Ashkenazi Jews. The infiltration of Gaucher cells into the bone marrow, spleen, and liver is thought to be the primary source of the cytopenia, splenomegaly, hepatomegaly, and bone lesions linked to the illness. The majority of cases of Gaucher disease, type-1, involve the viscera (around 90% in Europe and the USA, but less in other countries). Types 2 and 3 are also linked to brain disorders. Impairment, which in type 2 can be severe or varied. The inadequacy of leukocyte acid glucocerebrosidase activity can be used to confirm a GD diagnosis. GBA1 gene mutations should be found as, in certain circumstances, they may have predictive significance. Parkinson’s disease is more likely to occur in patients with type-1 GD, but also in carriers of the GBA1 mutation. The risk of neoplasia related to the condition is still up for debate.Intravenous enzyme replacement therapy (ERT) utilising one of the currently available molecules (imiglucerase, velaglucerase, or taliglucerase) is the disease-specific treatment. It is also possible to employ oral glucosylceramide biosynthesis inhibitors.

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IJARIIE Gurgude Harshada Nanasaheb . "A review on GAUCHER'S DISEASE" International Journal Of Advance Research And Innovative Ideas In Education Volume 10 Issue 2 2024 Page 5050-5060
MLA Gurgude Harshada Nanasaheb . "A review on GAUCHER'S DISEASE." International Journal Of Advance Research And Innovative Ideas In Education 10.2(2024) : 5050-5060.
APA Gurgude Harshada Nanasaheb . (2024). A review on GAUCHER'S DISEASE. International Journal Of Advance Research And Innovative Ideas In Education, 10(2), 5050-5060.
Chicago Gurgude Harshada Nanasaheb . "A review on GAUCHER'S DISEASE." International Journal Of Advance Research And Innovative Ideas In Education 10, no. 2 (2024) : 5050-5060.
Oxford Gurgude Harshada Nanasaheb . 'A review on GAUCHER'S DISEASE', International Journal Of Advance Research And Innovative Ideas In Education, vol. 10, no. 2, 2024, p. 5050-5060. Available from IJARIIE, https://ijariie.com/AdminUploadPdf/A_review_on_GAUCHER_S_DISEASE_ijariie23513.pdf (Accessed : ).
Harvard Gurgude Harshada Nanasaheb . (2024) 'A review on GAUCHER'S DISEASE', International Journal Of Advance Research And Innovative Ideas In Education, 10(2), pp. 5050-5060IJARIIE [Online]. Available at: https://ijariie.com/AdminUploadPdf/A_review_on_GAUCHER_S_DISEASE_ijariie23513.pdf (Accessed : )
IEEE Gurgude Harshada Nanasaheb , "A review on GAUCHER'S DISEASE," International Journal Of Advance Research And Innovative Ideas In Education, vol. 10, no. 2, pp. 5050-5060, Mar-App 2024. [Online]. Available: https://ijariie.com/AdminUploadPdf/A_review_on_GAUCHER_S_DISEASE_ijariie23513.pdf [Accessed : ].
Turabian Gurgude Harshada Nanasaheb . "A review on GAUCHER'S DISEASE." International Journal Of Advance Research And Innovative Ideas In Education [Online]. volume 10 number 2 ().
Vancouver Gurgude Harshada Nanasaheb . A review on GAUCHER'S DISEASE. International Journal Of Advance Research And Innovative Ideas In Education [Internet]. 2024 [Cited : ]; 10(2) : 5050-5060. Available from: https://ijariie.com/AdminUploadPdf/A_review_on_GAUCHER_S_DISEASE_ijariie23513.pdf
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