All issues > Volume 27(6); 1984

Case Report

J Korean Pediatr Soc. 1984;27(6):621-627. Published online June 30, 1984.

A Case of Glycogen Storage Disease Type IIa.

Dong Hyung Choo¹, Dong Kyoon Kim¹, Hyung Ro Moon¹, Choong Kon Kim²

¹Dept, of Pediatrics, Seoul National University Hospital, Seoul, Korea
²Dept, of Pediatrics, Ewha University Hospital, Seoul, Korea

Abstract

Glycogen storage disease type Ha(GSD la), also known as generalized glycogenosis, cardiomegalic glycogenosis, and Pompe disease, is a very rare form of glycogenosis. The authors reported a case of GSD J a in an eight months old girl who presented with respiratory problems, marked hypotonia, cardiomegaly, and macroglossia. The diagnosis was made on clinical grounds including pathologic findings of muscle biopsy although alpha-1,4 glucosidase deficiency was not proven by an enzyme assay.

Keywords :Glycogen storage disease type II a(GSD II a); Alpha-1,4 glucosidase