Bone marrow transplantation for aspartylglucosaminuria: follow-up study of transplanted and non-transplanted patients

J Pediatr. 2001 Feb;138(2):288-90. doi: 10.1067/mpd.2001.110119.

Abstract

We describe the state of health, intellectual skills, and dysmorphic features of 19 young patients with aspartylglucosaminuria. Of them, 5 had undergone a successful bone marrow transplantation between 1991 and 1997. The first 2 patients who received transplants were, after 7 and 5 years' follow-up, more severely mentally retarded than the non-transplanted patients. The general health of the later patients was quite good, whereas the 5 patients who underwent bone marrow transplantation had post-transplant complications. Their dysmorphic status remained unchanged. We cannot encourage bone marrow transplantation for the treatment of patients with aspartylglucosaminuria after infancy.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aspartylglucosaminuria*
  • Bone Marrow Transplantation* / adverse effects
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Humans
  • Male
  • Treatment Outcome