The authors describe four cases of atypical forms of glycogenosis with α-1,4-glucosidase (acid maltase) deficiency. The results of clinical, microscopic, histochemical, enzymological and immunological studies are described. Acid maltase activity has been studied in muscle, leukocytes and fibroblasts. The authors emphasize the heterogeneity of acid maltase deficiency in man. The results show no difference in the properties of acid maltase; the authors study the purified enzyme from various tissues.

The authors describe four cases of atypical forms of glycogenosis with α-1,4-glucosidase (acid maltase) deficiency. The results of clinical, microscopic, histochemical, enzymological and immunological studies are described. Acid maltase activity has been studied in muscle, leukocytes and fibroblasts. The authors emphasize the heterogeneity of acid maltase deficiency in man. The results show no difference in the properties of acid maltase; the authors study the purified enzyme from various tissues.