A case of glycogen storage disease type Ib.
10.3345/kjp.2009.52.12.1383
- Author:
Moon Sun KIM
1
;
Jae Bok PARK
;
Chang Seok KI
;
Jin Kyung KIM
Author Information
1. Department of Pediatrics, Catholic University of Daegu School of Medicine, Daegu, Korea. kimjk@cu.ac.kr
- Publication Type:Case Report
- Keywords:
Glycogen storage disease type Ib;
Glucose-6-phosphate translocase;
Neutropenia
- MeSH:
Bacterial Infections;
Glucose-6-Phosphate;
Glycogen;
Glycogen Storage Disease;
Humans;
Infant;
Mutation, Missense;
Neutropenia;
Neutrophils
- From:Korean Journal of Pediatrics
2009;52(12):1383-1387
- CountryRepublic of Korea
- Language:English
-
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).
