Combined SAP deficiency

Definition:

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.

References:

[1]. H Hulková, et al. A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. Hum Mol Genet. 2001 Apr 15;10(9):927-40. [Content Brief]

[2]. Ying Sun, et al. Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking. Hum Mol Genet. 2007 Apr 15;16(8):957-71. [Content Brief]

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