Gaucher Hastalığı-Nöronopatik Tip 3-Olgu Sunumu

Authors : Halit Özkaya, Gökhan Aydemir, Abdullah Barış Akcan, Mustafa Kul, Ferhan Karademir, Seçil Aydinöz, Selami Süleymanoğlu

Pages : 231-234

View : 34 | Download : 16

Publication Date : 2011-12-01

Article Type : Other

Abstract :Gaucher disease is an autosomal ressesive, lysosomal storage disease, characterized by glycosylcerebroside deposition in reticulo-endothelial cells, due to deficiency of lysosomal glucocerebrosidase. Glucocerebroside accumulated in lysosomes of monocytes and macrophages ,frequently infiltrates many organs such as the bone marrow, lymph nodes, liver and spleen and causes multisystemic symptoms. In Gaucher disease, according to neurological involvement and the progress of neurological disease there are 3 sub-types. Type 1 adult form where there is no neurological involvement, Type 2 , infantile or acute neuropathic and Type 3, subacute juvenile neuropathic type. Enzyme and gene therapy are new curative therapies for Gaucher disease and due to it’s rarity, we present a case report and reviewed the diasease
Keywords : Gaucher disease, glucocerebrosidase, treatment, neuropathic Type 3