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Inborn Errors

Measurements from normal umbilical cord blood of four lysosomal enzymatic activities: α-L-iduronidase (Hurler), galactocerebrosidase (globoid cell leukodystrophy), arylsulfatase A (metachromatic leukodystrophy), arylsulfatase B (Maroteaux-Lamy)

Bone Marrow Transplantation volume 25, pages 541–544 (2000)Cite this article

Abstract

Umbilical cord blood (UCB) has received increasing attention as a source of unrelated hematopoietic stem cells for transplantation. Lysosomal diseases have been effectively treated and normal enzymatic activity has occurred subsequent to engraftment using UCB. The use of donor cells with normal amounts of enzyme, rather than those from carriers whose level may be 50% or less, is an obvious goal. The frequency of such heterozygotes varies from 1:10 to 1:140 or lower depending upon the disease at issue. We assayed the levels of lysosomal enzymes in normal UCB in random samples as well as those used for transplantation. We measured the following enzymatic activities: α-l-iduronidase (Hurler), galactocerebrosidase (globoid cell leuko- dystrophy) and arylsulfatase A (metachromatic leukodystrophy). For the latter, levels of activity in UCB are comparable to those found in adult blood. In the case of arylsulfatase B (Maroteaux-Lamy) a level lower than adult level was found. An informed choice by the transplanting physician based on the activity of the relevant enzyme in the UCB donor will provide a better opportunity for an improved prognosis for more complete correction of the recipient's primary disease. Bone Marrow Transplantation (2000) 25, 541–544.

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Authors and Affiliations

  1. Department of Neurology, New York University School of Medicine, New York, NY

    R deGasperi, SS Raghavan, MAGama Sosa & EH Kolodny

  2. New York Blood Center, New York, NY

    C Carrier & P Rubenstein

  3. University of Minnesota, Minneapolis, MN

    C Peters, J Wagner & W Krivit

  4. Duke University, Durham, NC, USA

    J Kurtzberg

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  1. R deGasperi
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  2. SS Raghavan
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  3. MAGama Sosa
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  4. EH Kolodny
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  5. C Carrier
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  6. P Rubenstein
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  8. J Wagner
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deGasperi, R., Raghavan, S., Sosa, M. et al. Measurements from normal umbilical cord blood of four lysosomal enzymatic activities: α-L-iduronidase (Hurler), galactocerebrosidase (globoid cell leukodystrophy), arylsulfatase A (metachromatic leukodystrophy), arylsulfatase B (Maroteaux-Lamy). Bone Marrow Transplant 25, 541–544 (2000). https://doi.org/10.1038/sj.bmt.1702185

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