All issues > Volume 52(12); 2009

Case Report

Korean J Pediatr. 2009;52(12):1383-1387. Published online December 15, 2009.

A case of glycogen storage disease type Ib

Moon-Sun MS Kim¹, Jae-Bok JB Park², Chang-Seok CS Ki³, Jin-Kyung JK 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

Correspondence Jin-Kyung JK 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).

Keywords :Glycogen storage disease type Ib, Glucose-6-phosphate translocase, Neutropenia