Lymphocyte alpha-glucosidase in late-onset glycogenosis type II

M. Kuriyama, T. Kohriyama, T. Iwamasa, R. Hiwatari, M. Osame and A. Igata
Third Department of Internal Medicine, Kagoshima, University School of Medicine.

We describe the biochemical characterization of lymphocyte alpha-glucosidase in a 23-year-old man with intermediate clinical features between the childhood and adult forms of glycogenosis type II (Pompe's disease). Acid alpha-glucosidase activity was markedly reduced, but immunologic cross-reactive material against human liver acid alpha-glucosidase protein could be detected, and its amount was normal. In this patient, the disorder was induced by the catalytically inactive enzyme with a normal amount of enzyme protein.