7c. Type 3c Gaucher Disease: Response to ERT



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Here is a child with type 3c Gaucher Disease with hepatosplenomegaly and cardiac abnormalities who had a very good response to enzyme replacement therapy and grew up to be a healthy child but later succumbed to cardiac manifestations of the disease. Every patient with type 3c Gaucher Disease is homozygous for D409H mutation as shown here, and it has this very unique phenotype.  There is a lot of interest to try and understand what is the molecular basis of this very unique phenotype that does not occur in association with any other mutation in the GBA gene.







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