Lymphocyte alpha-glucosidase in late-onset glycogenosis type II.
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.
Kuriyama
M
M
Third Department of Internal Medicine, Kagoshima, University School of Medicine.
Kohriyama
T
T
Iwamasa
T
T
Hiwatari
R
R
Osame
M
M
Igata
A
A
D000328:Adult; D006009:Glycogen Storage Disease Type II / Q000201:enzymology*; D006801:Humans; D007124:Immunoenzyme Techniques; D007158:Immunologic Techniques; D008214:Lymphocytes / Q000201:enzymology* / Q000378:metabolism; D008297:Male; D013194:Staining and Labeling; D000520:alpha-Glucosidases / Q000378:metabolism*
D000520:alpha-Glucosidases