Genetic relationship between lysosomal and lamellar body-specific α-glucosidases in human lung

Abstract

In lamellar bodies isolated from adult human lung at least two acid α-glucosidases are present: one similar to the lung lysosomal α-glucosidase, and another lamellar body-specific isoenzyme. In the present study we measured the activity of this lamellar body-specific α-glucosidase and of lysosomal α-glucosidase in a patient with an inherited deficiency of lysosomal α-glucosidase. The activity of the lamellar body-specific α-glucosidase was not affected in the patient, whereas the lysosomal α-glucosidase activity was strongly depressed. The results strongly suggest that the lysosomal α-glucosidase and the lamellar body-specific α-glucosidase are different gene products.