GAUCHER’S DISEASE Gaucher's disease is a type of lysosomal storage disease caused by deficiency of B-qlucocerebrosidase INCIDENCE & INHERITANCE iP TYPE1 AUTOSOMAL RECESSIVE in 40,000 - 60,000 fe ( i eee TYPE2 caused by mutations in f the Gbal gene. In 1/100,000 bs - provid i |] insneion or making YPE3 ) |) anenzyme, In 1/100,000 humsl comer cowr cam Brglucocerebrosidase. | CHARACTERISTICS CC a WOseGTMON NDS | Fores ps = tenes any 36 Fistyear fife | Chighood Dhoese couse Brogresive | Rapley prosrensve | Progrestve act Canrecoverfomi sta Riasowy cone eel SIGNS & SYMPTOMS = a + Liver& spleen +Lver& spleen + Sezures enlargement enlargement + Eye “Thrombocytopenia {as early as 3 movement + Lung disease months ofage) disorders + Anemia + Substantial + Blood disorders + Bone defects brain damage skeletal + Seizures abnormalities + Abnormaleye movements + usually die prior to the age of 2 x ENZYME REPLACEMENT TREATMENT used fo replace missing enzymes through intravenous (IV) infusion with a recombinant B-glucocerebrosidase. Allifelong & regular treatment Avaliable recombinant B-glucocerebrosidases are: * Imiglucerase Velagiucerase Taliglucerase alfa (Elelyso} + Eliglustat (Cerdelga| REFERECENCES: Hardin. J, Bertoni, G, inst 1, & Becker, W-M 2012}. Becker’ world of he cl ston: Benjamin Cummings Leaning About Gaucher Disease National Human Genome Research institute [NMGRI, (Reseed September 38, 2015, fom hips genome gv/23521505 learring-about gauche ease 4 hp physo-pedia com/Gaucher Diese pr nes medical net/pws/20140930/ Couches disease an inter ith De Clement Olver Shire aspx PooNny PZ