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Glycogenosis type II (acid maltase deficiency)
A J Reuser1, M A Kroos, M M Hermans
1Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
Muscle & Nerve. Supplement
|January 1, 1995
Summary
Glycogen storage disease type II (GSD II) results from a deficiency in the enzyme acid alpha-glucosidase, leading to glycogen buildup. This review updates knowledge on GSD II genetics, diagnosis, and potential therapies.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Glycogen storage disease type II (GSD II), also known as Pompe disease, is an autosomal recessive disorder.
- It stems from a deficiency of the lysosomal enzyme alpha-glucosidase, causing glycogen accumulation within lysosomes.
- Clinical presentation is heterogeneous, with distinct early and late-onset phenotypes.
Purpose of the Study:
- To provide an updated review of Glycogen storage disease type II (GSD II).
- To present original data on mutations in the alpha-glucosidase gene and prenatal diagnosis.
- To discuss genotype-phenotype correlations and therapeutic prospects for GSD II.
Main Methods:
- Literature review of current research on GSD II.
- Analysis of original data concerning mutations in the lysosomal alpha-glucosidase gene.
- Evaluation of prenatal diagnosis methods, including chorionic villus sampling.
Main Results:
- Significant advancements in understanding the molecular basis of GSD II and its genetic defects have occurred.
- Original data on specific mutations and their correlation with disease phenotypes were analyzed.
- Prenatal diagnosis via chorionic villus sampling is feasible.
Conclusions:
- The molecular understanding of GSD II has greatly improved.
- Genotype-phenotype correlations are being elucidated, aiding in predicting disease progression.
- Therapeutic strategies for GSD II are under investigation, offering hope for future treatments.