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

@inproceedings{Kucha2009ProsaposinDA,
  title={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},
  author={Ladislav Kuchař and Jana Ledvinov{\'a} and Martin Hřeb{\'i}{\vc}ek and Helena Myskov{\'a} and Lenka Dvoř{\'a}kov{\'a} and Linda Bern{\'a} and Petr Chrastina and Befekadu Asfaw and Milan Elleder and Margret Peterm{\"o}ller and Heidi Mayrhofer and Martin Staudt and Ingeborg Kr{\"a}geloh-Mann and Barbara C. Paton and Klaus Harzer},
  booktitle={American journal of medical genetics. Part A},
  year={2009}
}
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 with SapB-d, who presented with a metachromatic leukodystrophy-like disorder but had… CONTINUE READING

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