Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations

Abstract

Two patients, one with pSap-d and the other with SapB-d having novel PSAP mutation(s) were detected by urinary glycosphingolipid analysis. Tandem mass spectrometry proved to be an efficient screening method showing elevation in multiple sphingolipids.

Keywords

• sphingolipid activator proteins
• prosaposin
• urinary lipids
• mass spectrometry
• PSAP gene
• saposin deficiency
• metachromatic leukodystrophy