Emerging therapies for glycogen storage disease type I

被引：33
作者：
Koeberl, D. D. [1 ]
Kishnani, P. S. [1 ]
Bali, D. [1 ]
Chen, Y-T. [1 ,2 ]
机构：
[1] Duke Univ, Med Ctr, Div Med Genet, Dept Pediat, Durham, NC 27710 USA
[2] Acad Sinica, Inst Biomed Sci, Taipei 115, Taiwan
来源：
TRENDS IN ENDOCRINOLOGY AND METABOLISM | 2009年 / 20卷 / 05期
关键词：
GLUCOSE-6-PHOSPHATASE CATALYTIC SUBUNIT; DONOR LIVER-TRANSPLANTATION; MEDIATED GENE-THERAPY; HEPATOCELLULAR ADENOMA; RENAL DYSFUNCTION; CANINE MODEL; 1B; NEUTROPENIA; MANAGEMENT; EFFICACY;
D O I：
10.1016/j.tem.2009.02.003
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Glycogen storage disease type I (GSD I) is caused by deficiency of the glucose-6-phosphatase catalytic subunit in type la or of glucose-6-phosphate transporter in type lb. The cellular bases for disruptions of homeostasis have been increasingly understood in GSD I, including those for anemia, renal failure and neutropenia. Advances in the understanding of cellular abnormalities in GSD I have provided rationales for new therapy, and recent developments in gene therapy have led to potential curative treatments for GSD I. These advances will benefit patients with GSD I in the future, improving both quality of life and survival, as well as illuminating the molecular effects of altered metabolism upon multiple organ systems.
引用
收藏
页码：252 / 258
页数：7
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