PEDIATRICS Vol. 53 No. 1 January 1974, pp. 71-75
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DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE I BY SERUM IMMUNODIFFUSION

P. J. Collipp M.D.1, S. Y. Chen M.A.1, V. T. Maddaiah Ph.D.1, J. Thomas M.D.1, and F. J. Huijing D.Sc.1

1 Research Laboratories, Department of Pediatrics, Nassau County Medical Center, East Meadow, New York and the Department of Biochemistry, School of Medicine, University of Miami, Miami, Florida

An antiserum was prepared by immunizing guinea pigs with a preparation of partially purified human liver microsomal glucose-6-phosphatase. Using double agar diffusion and immunoelectrophoresis this antiserum was found to react with an antigen in normal human serum, and also with serum from a child with glycogen storage disease, type III, i.e., debranching enzyme deficiency. No reaction occurred with serum or liver from patients with glycogen storage disease type I. While additional experience with this method is needed, this paper presents a potential method for establishing the diagnosis of type I glycogen storage disease without resort to liver biopsy.

Submitted on March 30, 1973
Accepted on June 11, 1973