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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.
Hulková H, Cervenková M, Ledvinová J, Tochácková M, Hrebícek M, Poupetová H, Befekadu A, Berná L, Paton BC, Harzer K, Böör A, Smíd F, Elleder M. Hulková H, et al. Hum Mol Genet. 2001 Apr 15;10(9):927-40. doi: 10.1093/hmg/10.9.927. Hum Mol Genet. 2001. PMID: 11309366
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.
Kuchar L, Ledvinová J, Hrebícek M, Mysková H, Dvoráková L, Berná L, Chrastina P, Asfaw B, Elleder M, Petermöller M, Mayrhofer H, Staudt M, Krägeloh-Mann I, Paton BC, Harzer K. Kuchar L, et al. Am J Med Genet A. 2009 Feb 15;149A(4):613-21. doi: 10.1002/ajmg.a.32712. Am J Med Genet A. 2009. PMID: 19267410 Free PMC article.