Korean J Pediatr.
2009 Dec;52(12):1383-1387. 10.3345/kjp.2009.52.12.1383.
A case of glycogen storage disease type Ib
- Affiliations
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- 1Department of Pediatrics, Catholic University of Daegu School of Medicine, Daegu, Korea. kimjk@cu.ac.kr
- 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, Korea.
- KMID: 1475789
- DOI: http://doi.org/10.3345/kjp.2009.52.12.1383
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/microL 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).
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