Identification of heterozygotes for glycogenosis 2 (acid maltase deficiency)

In 21 obligate and 9 possible heterozygotes for acid maltase deficiency (AMD) (glycogenosis 2, Pompe's disease), different methods of identifying heterozygotes have been studied. Heterozygosity could not be demonstrated by physical examination, serum CPK assays, morphological examination of muscle biopsy (including light-microscopy, histochemistry and electron-microscopy), or by ultrastructural examination of a skin biopsy. Heterozygotes could be identified to a large, but still limited extent, by measuring the acid alpha-glucosidase activity in urine, cultivated fibroblasts, leucocytes, or skeletal muscle. Heterozygotes for the generalized from of AMD could not be distinguished from those for the muscular form. The limitations of heterozygote identification by means of enzyme assays are discussed, and some practical aspects for genetic counselling are mentioned.