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Sanofi Genzyme

SSIEM 2022 | Aug 30, 2022 - Sep 2, 2022

Gaucher

Gaucher disease is an autosomal recessive disorder caused by a deficiency in glucocerebrosidase (GBA) enzyme activity. Deficiency or absence of the enzyme leads to buildup of glycosylceramide (GL-1) and glucosylsphingosine (lyso-GL-1). Three clinical types are delineated by the absence (type 1) or presence (types 2 and 3) of primary CNS involvement. Type 3 disease is a chronic neuronopathic disorder with wide-ranging effects and diverse neurological manifestations.

Posters and Presentations