NewsMOLECULAR GENETICS AND METABOLISMWednesday, March 11, 2026 · March 11, 2026
Repurposing Gaucher disease therapy for Saposin C deficiency: Proof-of-concept with eliglustat.
WHY IT MATTERS
Recent peer-reviewed research on Gaucher disease that may be relevant for patients and caregivers.
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....
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