Article
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.
American journal of medical genetics. Part A - 15 Feb 2009
Kuchar Ladislav, Ledvinová Jana, Hrebícek Martin, Mysková Helena, Dvoráková Lenka, Berná Linda, Chrastina Petr, Asfaw Befekadu, Elleder Milan, Petermöller Margret, Mayrhofer Heidi, Staudt Martin, Krägeloh-Mann Ingeborg, Paton Barbara C, Harzer Klaus
Abstract excerpt
Prosaposin deficiency (pSap-d) and saposin B deficiency (SapB-d) are both lipid storage disorders caused by mutations in the PSAP gene that codes for the 65-70 kDa prosaposin protein, which is the precursor for four sphingolipid activator proteins, saposins A-D. We report on two new patients with PSAP gene defects; one, with pSap-d, who had a severe neurovisceral dystrophy and died as a neonate, and the other...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.