Effective treatment of α-mannosidosis by allogeneic hematopoietic stem cell transplantation

Satkiran S. Grewal, Elsa G. Shapiro, William Krivit, Lawrence Charnas, Lawrence A. Lockman, Kathleen A. Delaney, Stella M. Davies, David A. Wenger, Frank L. Rimell, Susan Abel, Alfred C. Grovas, Paul J. Orchard, John E. Wagner, Charles Peters

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61 Scopus citations


Objectives: To study the efficacy of hematopoietic stem cell transplantation (HCT) for ameliorating the clinical manifestations of α-mannosidosis. Study design: Four patients with α-mannosidosis underwent allogeneic HCT at the University of Minnesota. Diagnosis was established by assay of leukocyte α-mannosidase activity level. Physical features, donor engraftment, leukocyte α-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 α-mannosidosis. Early diagnosis and treatment with HCT is critical for optimal results.

Original languageEnglish (US)
Pages (from-to)569-573
Number of pages5
JournalJournal of Pediatrics
Issue number5
StatePublished - May 2004

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