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      Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease.

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          Abstract

          Gaucher's disease, the most prevalent of the sphingolipid storage disorders, is caused by a deficiency of the enzyme glucocerebrosidase (glucosylceramidase). Enzyme replacement was proposed as a therapeutic strategy for this disorder in 1966. To assess the clinical effectiveness of this approach, we infused macrophage-targeted human placental glucocerebrosidase (60 IU per kilogram of body weight every 2 weeks for 9 to 12 months) into 12 patients with type 1 Gaucher's disease who had intact spleens. The frequency of infusions was increased to once a week in two patients (children) during part of the trial because they had clinically aggressive disease.

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          Author and article information

          Journal
          N Engl J Med
          The New England journal of medicine
          Massachusetts Medical Society
          0028-4793
          0028-4793
          May 23 1991
          : 324
          : 21
          Affiliations
          [1 ] Departmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892.
          Article
          10.1056/NEJM199105233242104
          2023606
          1e850a7e-6b09-4d0b-81ee-90636e791ff0
          History

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