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A case of glycogen storage disease type Ib

Korean Journal of Pediatrics 2009;52(12):1383-1387.
Published online December 15, 2009.
A case of glycogen storage disease type Ib
Moon-Sun Kim1, Jae-Bok Park2, Chang-Seok Ki3, Jin-Kyung Kim1
1Department of Pediatrics, Catholic University of Daegu School of Medicine, Daegu, Korea
2Department of Pathology, Catholic University of Daegu School of Medicine, Daegu, Korea
3Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine
당원병 1b 형 1례
김문선1, 박재복2, 기창석3, 김진경1
1대구가톨릭대학교 의과대학 소아과학교실
2대구가톨릭대학교 의과대학 병리학교실
3성균관대학교 의과대학 삼성서울병원 진단검사의학교실
Correspondence: 
Jin-Kyung Kim, Email: kimjk@cu.ac.kr
Abstract
We report a case of an 18-month-old girl with glycogen storage disease type Ib (GSD Ib). Her neutrophil counts had gradually decreased to less than 500/µL by the age of 3 years. However, there were no recurrent bacterial infections. Mutation analysis of the glucose-6-phosphate translocase (G6PT) gene revealed a compound heterozygous missense mutation (Ala148Val/Gly273Asp).
Key Words: Glycogen storage disease type Ib, Glucose-6-phosphate translocase, Neutropenia


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