H01239
H number H01239
Name Combined SAP deficiency;
Prosaposin deficiency
Description Combined SAP deficiency is a fatal infantile lysosomal storage disorder with hepatosplenomegaly and severe neurological disease. It is caused by mutations in the PSAP gene leading to absence or non-functionality of the prosaposin protein. Mammalian prosaposin encodes in tandem four small acidic activator proteins (saposins) with specificities for glycosphingolipids hydrolases.
Category Inherited metabolic disease; Lysosomal storage disease