Journal of the Korean Pediatric Society 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
당원병 II a형1례
주동현1, 김동균1, 문형로1, 김중곤2
1서울대학교 의과대학 소아과학교실
2이화여자대학교 의과대학 소아과학교실
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.
Key Words: Glycogen storage disease type II a(GSD II a), Alpha-1,4 glucosidase




Close layer
prev next