Glycogen Storage Disease Type Ib: The First Case in Taiwan
Journal
Pediatrics and Neonatology
Journal Volume
50
Journal Issue
3
Pages
125-128
Date Issued
2009
Author(s)
Abstract
Glycogen storage disease (GSD) type Ib is caused by the deficiency of glucose-6-phosphate translocase activity. The elder brother of the proband died at age 20 months, and GSD Ia, a disease caused by the deficiency of glucose-6-phosphatase, was the diagnosis. The proband developed hypoglycemia shortly after birth. Dietary therapy was instituted immediately, but his growth was poor and there were repeated episodes of pyogenic infection. Neutropenia had been observed since 6 months of age, but the diagnosis of GSD Ib was established only at 18 months of age after two mutations (c.354_355insC (p. W118fsX12) and c.736T >C (p.W246R)) were detected on his SLC37A4 gene. Regular administration of G-CSF rapidly improved his health and decreased his hospital stay. Although GSD Ib is very rare in Taiwan, correct diagnosis is essential to save the lives of such patients. ? 2009 Taiwan Pediatric Association.
Other Subjects
glucose 6 phosphatase; recombinant granulocyte colony stimulating factor; article; case report; child; diagnostic accuracy; diet therapy; gene mutation; glycogen storage disease type 1; hospitalization; human; hypoglycemia; laboratory test; length of stay; male; neutropenia; physical examination; preschool child; Taiwan; treatment outcome; Antiporters; Child, Preschool; Filgrastim; Glycogen Storage Disease Type I; Humans; Male; Monosaccharide Transport Proteins; Mutation; Taiwan
Type
journal article