Repurposing Gaucher disease therapy for Saposin C deficiency: Proof-of-concept with eliglustat.

Abstract excerpt

Saposin C (Sap C) deficiency (GDSAPC, OMIM #610539, ORPHA:309252) is an ultra-rare autosomal recessive disorder caused by mutations in the PSAP gene. Sap C functions as an essential activating cofactor of glucosylceramidase (GCase) and facilitates the degradation of glucosylceramide in the lysosome. In the absence of its activator, GCase is structurally intact but its function is impaired, leading to pathological...

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• Enzyme Replacement Therapy
• Gaucher Disease
• Glucosylceramidase
• Glucosylceramides
• Mutation