Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal alpha-glucosidase resulting in lysosomal accumulation of glycogen. The disease is inherited as an autosomal recessive trait and is clinically heterogeneous.
Lysosomal Storage Disorders || Pompe Disease-Glycogenosis Type II: Acid Maltase Deficiency
โ Scribed by Barranger, John A.; Cabrera-Salazar, Mario A.
- Book ID
- 121702506
- Publisher
- Springer US
- Year
- 2007
- Tongue
- English
- Weight
- 343 KB
- Edition
- 1
- Category
- Article
- ISBN
- 0387709096
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โฆ Synopsis
The knowledge of lysosomal biology and the consequences of its dysfunction have increased dramatically in the past 60 years. This book describes the nature of the lysosomal dysfunction and diseases as well as potential future treatments and therapies. Disease specific chapters provide thorough reviews of the clinical features of lysosomal storage disorders, their molecular basis and the commercial or experimental therapeutic approaches sought in this area. This is an invaluable resource for researchers in biochemical and molecular genetics, enzyme therapy, and gene transfer.
๐ SIMILAR VOLUMES
We describe a boy with an early lethal hypertrophic vacuolar cardiomyopathy of neonatal onset. Abnormal intra-and extralysosomal glycogen storage disease was demonstrated in heart and skeletal muscles. Glycogen content was twice the normal in muscles and over 3-fold the normal in the heart. In this