Bone Marrow Transplantation for Glycogen Storage Disease Type II (Pompé's Disease)

Abstract

To the Editor: We recently transplanted allogeneic bone marrow in a 16-month-old child with Pompé's disease. She had had feeding difficulties and hypotonia since birth. At eight months she had hypotonia, hepatomegaly, and cardiomegaly with elevated levels of creatine kinase, lactic dehydrogenase, and aspartate transaminase. An electromyogram showed pseudomyotonic discharges. Muscle biopsy showed extensively vacuolated fibers filled with glycogen; type 1 fibers were more affected. Muscle acid maltase activity was 20 nmol per milligram of tissue per hour (control, 155), and neutral maltase activity was 113 nmol per milligram per hour (control, 36.2). Cultured skin fibroblasts had no detectable acid . . .