Article
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.
Journal of inherited metabolic disease - 1 Dec 2010
Li Sing-Chung, Chen Chiao-Ming, Goldstein Jennifer L, Wu Jer-Yuarn, Lemyre Emmanuelle, Burrow Thomas Andrew, Kang Peter B, Chen Yuan-Tsong, Bali Deeksha S
Abstract excerpt
Glycogen storage disease type IV (GSD IV; Andersen disease) is caused by a deficiency of glycogen branching enzyme (GBE), leading to excessive deposition of structurally abnormal, amylopectin-like glycogen in affected tissues. The accumulated glycogen lacks multiple branch points and thus has longer outer branches and poor solubility, causing irreversible tissue and organ damage. Although classic GSD IV presents...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA Mutational Analysis
- Female
- Genetic Predisposition to Disease
- Genetic Testing
- Glycogen Debranching Enzyme System
- Glycogen Storage Disease Type IV
- Humans
- Infant
- Male
- Molecular Sequence Data