Glycogen Storage Disease Type Ib: The First Case in Taiwan
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 short...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2009-06-01
|
| Series: | Pediatrics and Neonatology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1875957209600486 |
| _version_ | 1818418940981805056 |
|---|---|
| author | Hui-Ju Hsiao Hsiu-Hao Chang Wuh-Liang Hwu Ching-Wan Lam Ni-Chung Lee Yin-Hsiu Chien |
| author_facet | Hui-Ju Hsiao Hsiu-Hao Chang Wuh-Liang Hwu Ching-Wan Lam Ni-Chung Lee Yin-Hsiu Chien |
| author_sort | Hui-Ju Hsiao |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-14T12:30:40Z |
| format | Article |
| id | doaj.art-354a5865ba4b425c8b90ebf858c8a883 |
| institution | Directory Open Access Journal |
| issn | 1875-9572 |
| language | English |
| last_indexed | 2024-12-14T12:30:40Z |
| publishDate | 2009-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Pediatrics and Neonatology |
| spelling | doaj.art-354a5865ba4b425c8b90ebf858c8a8832022-12-21T23:01:12ZengElsevierPediatrics and Neonatology1875-95722009-06-0150312512810.1016/S1875-9572(09)60048-6Glycogen Storage Disease Type Ib: The First Case in TaiwanHui-Ju Hsiao0Hsiu-Hao Chang1Wuh-Liang Hwu2Ching-Wan Lam3Ni-Chung Lee4Yin-Hsiu Chien5Department of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, TaiwanDepartment of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, TaiwanDepartment of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, TaiwanDepartment of Chemical Pathology, The Chinese University of Hong Kong, Hong Kong, ChinaDepartment of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, TaiwanDepartment of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, TaiwanGlycogen 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.http://www.sciencedirect.com/science/article/pii/S1875957209600486G-CSFglycogen storage disease type Ibneutropeniarecurrent infection |
| spellingShingle | Hui-Ju Hsiao Hsiu-Hao Chang Wuh-Liang Hwu Ching-Wan Lam Ni-Chung Lee Yin-Hsiu Chien Glycogen Storage Disease Type Ib: The First Case in Taiwan Pediatrics and Neonatology G-CSF glycogen storage disease type Ib neutropenia recurrent infection |
| title | Glycogen Storage Disease Type Ib: The First Case in Taiwan |
| title_full | Glycogen Storage Disease Type Ib: The First Case in Taiwan |
| title_fullStr | Glycogen Storage Disease Type Ib: The First Case in Taiwan |
| title_full_unstemmed | Glycogen Storage Disease Type Ib: The First Case in Taiwan |
| title_short | Glycogen Storage Disease Type Ib: The First Case in Taiwan |
| title_sort | glycogen storage disease type ib the first case in taiwan |
| topic | G-CSF glycogen storage disease type Ib neutropenia recurrent infection |
| url | http://www.sciencedirect.com/science/article/pii/S1875957209600486 |
| work_keys_str_mv | AT huijuhsiao glycogenstoragediseasetypeibthefirstcaseintaiwan AT hsiuhaochang glycogenstoragediseasetypeibthefirstcaseintaiwan AT wuhlianghwu glycogenstoragediseasetypeibthefirstcaseintaiwan AT chingwanlam glycogenstoragediseasetypeibthefirstcaseintaiwan AT nichunglee glycogenstoragediseasetypeibthefirstcaseintaiwan AT yinhsiuchien glycogenstoragediseasetypeibthefirstcaseintaiwan |