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Sanofi Genzyme

WORLDSymposium 2022 | Feb 7, 2022 - Feb 11, 2022

Gaucher

Gaucher disease is an autosomal recessive disorder caused by a deficiency in glucocerebrosidase (GBA) enzyme activity, encoded by the GBA gene. Deficiency or absence enzyme activity leads to a buildup of glycosylceramide (GL-1) and glucosylsphingosine (lyso-GL-1). Current findings on disease mechanism point towards not only a lower enzymatic activity of β-glucocerebrosidase, but also to an increased production of GL-1 by glucosylceramide synthase. Three clinical types are delineated by the absence (type 1) or presence (types 2 and 3) of primary CNS involvement.

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