title: Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation.
abstract: OBJECTIVE
  To study the efficacy of hematopoietic stem cell transplantation (HCT) for ameliorating the clinical manifestations of alpha-mannosidosis.
  
  
  METHODS
  Four patients with alpha-mannosidosis underwent allogeneic HCT at the University of Minnesota. Diagnosis was established by assay of leukocyte alpha-mannosidase activity level. Physical features, donor engraftment, leukocyte alpha-mannosidase activity, neuropsychologic function, and hearing were monitored before and after transplantation, with follow-up ranging from 1 to 6 years.
  
  
  RESULTS
  All 4 patients showed slowing of their neurocognitive development and sensorineural hearing loss before HCT. All patients are alive, with normalization of leukocyte enzyme activity after HCT. Intellectual function has stabilized, with improvement in adaptive skills and verbal memory function in 3 of 4 patients. Hearing has improved to normal or near normal for speech frequencies in 3 patients. No new skeletal abnormalities have developed.
  
  
  CONCLUSIONS
  HCT can halt the progressive cognitive loss in patients with alpha-mannosidosis. Early diagnosis and treatment with HCT is critical for optimal results.
authors.affiliation: Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN 55455, USA. grewa002@umn.edu
authors.forename: Satkiran S
authors.initials: SS
authors.lastname: Grewal
authors.forename: Elsa G
authors.initials: EG
authors.lastname: Shapiro
authors.forename: William
authors.initials: W
authors.lastname: Krivit
authors.forename: Lawrence
authors.initials: L
authors.lastname: Charnas
authors.forename: Lawrence A
authors.initials: LA
authors.lastname: Lockman
authors.forename: Kathleen A
authors.initials: KA
authors.lastname: Delaney
authors.forename: Stella M
authors.initials: SM
authors.lastname: Davies
authors.forename: David A
authors.initials: DA
authors.lastname: Wenger
authors.forename: Frank L
authors.initials: FL
authors.lastname: Rimell
authors.forename: Susan
authors.initials: S
authors.lastname: Abel
authors.forename: Alfred C
authors.initials: AC
authors.lastname: Grovas
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Orchard
authors.forename: John E
authors.initials: JE
authors.lastname: Wagner
authors.forename: Charles
authors.initials: C
authors.lastname: Peters
mesh_terms: D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000209:etiology / Q000517:prevention & control; D005260:Female; D005500:Follow-Up Studies; D006319:Hearing Loss, Sensorineural / Q000209:etiology / Q000517:prevention & control; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008297:Male; D008363:alpha-Mannosidosis / Q000150:complications / Q000628:therapy*