| A Case of Glycogen Storage Disease Type IIa. |
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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 |
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주동현1, 김동균1, 문형로1, 김중곤2 |
1서울대학교 의과대학 소아과학교실
2이화여자대학교 의과대학 소아과학교실 |
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| Abstract |
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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.
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| Key Words:
Glycogen storage disease type II a(GSD II a), Alpha-1,4 glucosidase |
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